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Peripheral neuropathy

MedGen UID:
141046
Concept ID:
C0442874
Disease or Syndrome
Synonyms: Neuropathy; Peripheral nerve damage; Peripheral neuritis
SNOMED CT: Neuropathy (386033004); Neuropathy (nerve damage) (386033004)
 
HPO: HP:0009830

Definition

Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVPeripheral neuropathy

Conditions with this feature

Carpal tunnel syndrome
MedGen UID:
2856
Concept ID:
C0007286
Disease or Syndrome
You're working at your desk, trying to ignore the tingling or numbness you've had for some time in your hand and wrist. Suddenly, a sharp, piercing pain shoots through the wrist and up your arm. Just a passing cramp? It could be carpal tunnel syndrome. The carpal tunnel is a narrow passageway of ligament and bones at the base of your hand. It contains nerve and tendons. Sometimes, thickening from irritated tendons or other swelling narrows the tunnel and causes the nerve to be compressed. Symptoms usually start gradually. As they worsen, grasping objects can become difficult. Often, the cause is having a smaller carpal tunnel than other people do. Other causes include performing assembly line work, wrist injury, or swelling due to certain diseases, such as rheumatoid arthritis. Women are three times more likely to have carpal tunnel syndrome than men. Early diagnosis and treatment are important to prevent permanent nerve damage. Your doctor diagnoses carpal tunnel syndrome with a physical exam and special nerve tests. Treatment includes resting your hand, splints, pain and anti-inflammatory medicines, and sometimes surgery. . NIH: National Institute of Neurological Disorders and Stroke.
Lipomatosis familial benign cervical
MedGen UID:
7349
Concept ID:
C0023804
Neoplastic Process
Multiple symmetric lipomatosis (MSL) is a rare disorder characterized by the growth of uncapsulated masses of adipose tissue. It is associated with high ethanol intake and may be complicated by somatic and autonomic neuropathy and by the infiltration of the adipose tissue at the mediastinal level (summary by Enzi et al., 2002).
Neurofibromatosis, type 2
MedGen UID:
18014
Concept ID:
C0027832
Neoplastic Process
Neurofibromatosis 2 (NF2) is characterized by bilateral vestibular schwannomas with associated symptoms of tinnitus, hearing loss, and balance dysfunction. The average age of onset is 18 to 24 years. Almost all affected individuals develop bilateral vestibular schwannomas by age 30 years. Affected individuals may also develop schwannomas of other cranial and peripheral nerves, meningiomas, ependymomas, and, very rarely, astrocytomas. Posterior subcapsular lens opacities that rarely progress to a visually significant cataract are the most common ocular findings and may be the first sign of NF2. Mononeuropathy that occurs in childhood is an increasingly recognized finding; it frequently presents as a persistent facial palsy, a squint (third nerve palsy), or hand/foot drop.
Polyarteritis nodosa
MedGen UID:
14681
Concept ID:
C0031036
Disease or Syndrome
Childhood-onset polyarteritis nodosa is an autosomal recessive systemic vascular inflammatory disorder characterized mainly by involvement of the skin, nervous system, kidney, and gastrointestinal tract. There is considerable variability in the severity and age at onset, although most patients have onset of symptoms in the first decade. Features include recurrent ischemic stroke affecting the small vessels of the brain and resulting in neurologic dysfunction, recurrent fever, elevated acute-phase proteins, myalgias, and livedo racemosa or reticularis with an inflammatory vasculitis on biopsy. Some patients develop hypertension, aneurysms, or ischemic necrosis of the digits (summary by Zhou et al., 2014 and Navon Elkan et al., 2014). Some patients present with clinical immunodeficiency (van Eyck et al., 2014).
Hereditary coproporphyria
MedGen UID:
57931
Concept ID:
C0162531
Disease or Syndrome
Hereditary coproporphyria (HCP) is an acute (hepatic) porphyria in which the acute symptoms are neurovisceral and occur in discrete episodes. Attacks typically start in the abdomen with low-grade pain that slowly increases over a period of days (not hours) with nausea progressing to vomiting. In some individuals, the pain is predominantly in the back or extremities. When an acute attack is untreated, a motor neuropathy may develop over a period of days or a few weeks. The neuropathy first appears as weakness proximally in the arms and legs, then progresses distally to involve the hands and feet. Some individuals experience respiratory insufficiency due to loss of innervation of the diaphragm and muscles of respiration. Acute attacks are associated commonly with use of certain medications, caloric deprivation, and changes in female reproductive hormones. About 20% of those with an acute attack also experience photosensitivity associated with bullae and skin fragility.
Variegate porphyria
MedGen UID:
58118
Concept ID:
C0162532
Disease or Syndrome
Variegate porphyria (VP) is a cutaneous porphyria (with chronic blistering skin lesions) and an acute porphyria (with severe episodic neurovisceral symptoms). The most common manifestation of VP is adult-onset cutaneous blistering lesions (subepidermal vesicles, bullae, and erosions that crust over and heal slowly) of sun-exposed skin, especially the hands and face. Other chronic skin findings include milia, scarring, thickening, and areas of decreased and increased skin pigmentation. Facial hyperpigmentation and hypertrichosis may occur. Cutaneous manifestations may improve in winter, and be less prevalent in northern regions and in dark-skinned individuals. Acute neurovisceral symptoms can occur any time after puberty, but less often in the elderly. Acute manifestations are highly variable, but may be similar from episode to episode in a patient with recurrent attacks; not all symptoms are present in a single episode; and acute symptoms may become chronic. Symptoms are more common in women than men. The most common symptoms are abdominal pain; constipation; pain in the back, chest, and extremities; anxiety; seizures; and a primarily motor neuropathy resulting in muscle weakness that may progress to quadriparesis and respiratory paralysis. Psychiatric disturbances and autonomic neuropathy can also be observed. Acute attacks may be severe and are potentially fatal.
Cholestanol storage disease
MedGen UID:
116041
Concept ID:
C0238052
Disease or Syndrome
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Chronic diarrhea from infancy may be the earliest clinical manifestation. In approximately 75% of affected individuals, cataracts are the first finding, often appearing in the first decade of life. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Some individuals show cognitive impairment from early infancy, whereas the majority have normal or only slightly impaired intellectual function until puberty; dementia with slow deterioration in intellectual abilities occurs in the 20s in more than 50% of individuals. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent. Pyramidal signs (i.e., spasticity) and/or cerebellar signs almost invariably become evident between ages 20 and 30 years. The biochemical abnormalities that distinguish CTX from other conditions with xanthomas include high plasma and tissue cholestanol concentration, normal-to-low plasma cholesterol concentration, decreased chenodeoxycholic acid, increased concentration of bile alcohols and their glyconjugates, and increased concentrations of cholestanol and apolipoprotein B in cerebrospinal fluid.
Primary hyperoxaluria, type I
MedGen UID:
75658
Concept ID:
C0268164
Disease or Syndrome
Primary hyperoxaluria type 1 (PH1) is caused by a deficiency of the liver peroxisomal enzyme alanine:glyoxylate-aminotransferase (AGT), which catalyzes the conversion of glyoxylate to glycine. When AGT activity is absent, glyoxylate is converted to oxalate, which forms insoluble calcium salts that accumulate in the kidney and other organs. Individuals with PH1 are at risk for recurrent nephrolithiasis (deposition of calcium oxalate in the renal pelvis/urinary tract), nephrocalcinosis (deposition of calcium oxalate in the renal parenchyma), or end-stage renal disease (ESRD) with a history of renal stones or calcinosis. Age at onset of symptoms typically ranges from one to 25 years. Approximately 19% of affected individuals present before age four to six months with severe disease, often associated with failure to thrive, nephrocalcinosis, anemia, and metabolic acidosis. Approximately 54% of affected individuals present in late childhood or early adolescence, usually with symptomatic nephrolithiasis. The remainder of affected individuals present in adulthood with recurrent renal stones. The natural history of untreated PH1 is one of inexorable decline in renal function as a result of progressive nephrolithiasis/nephrocalcinosis, with eventual progression to oxalosis (widespread tissue deposition of calcium oxalate) and death from ESRD.
Congenital defect of folate absorption
MedGen UID:
83348
Concept ID:
C0342705
Disease or Syndrome
Hereditary folate malabsorption (HFM) is characterized by folate deficiency with impaired intestinal folate absorption and impaired folate transport into the central nervous system (CNS). Findings include poor feeding and failure to thrive, anemia often accompanied by leukopenia and/or thrombocytopenia, diarrhea and/or oral mucositis, hypoimmunoglobulinemia, and other immunologic dysfunction resulting in infections with unusual organisms. Neurologic manifestations include developmental delays, cognitive and motor impairment, behavioral disorders and, frequently, seizures.
Mitochondrial trifunctional protein deficiency
MedGen UID:
87460
Concept ID:
C0342786
Disease or Syndrome
The mitochondrial trifunctional protein, composed of 4 alpha and 4 beta subunits, catalyzes 3 steps in mitochondrial beta-oxidation of fatty acids: long-chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD), long-chain enoyl-CoA hydratase, and long-chain thiolase activities. Trifunctional protein deficiency is characterized by decreased activity of all 3 enzymes. Clinically, classic trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death (SIDS; 272120), infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy (Spiekerkoetter et al., 2003). Some patients with MTP deficiency show a protracted progressive course associated with myopathy, recurrent rhabdomyolysis, and sensorimotor axonal neuropathy. These patients tend to survive into adolescence and adulthood (den Boer et al., 2003). See also isolated LCHAD deficiency (609016), which is caused by mutation in the HADHA gene.
Congenital hypomyelinating neuropathy
MedGen UID:
97965
Concept ID:
C0393818
Disease or Syndrome
Charcot-Marie-Tooth neuropathy type 4 (CMT4) is a group of progressive motor and sensory axonal and demyelinating neuropathies that are distinguished from other forms of CMT by autosomal recessive inheritance. Affected individuals have the typical CMT phenotype of distal muscle weakness and atrophy associated with sensory loss and, frequently, pes cavus foot deformity.
Spastic paraplegia 23
MedGen UID:
167094
Concept ID:
C0796019
Disease or Syndrome
Spastic paraplegia-23 is an autosomal recessive neurologic disorder characterized by childhood-onset spastic paraplegia resulting in gait difficulties and associated with pigmentary abnormalities, including premature graying of the hair and vitiligo-like or hyperpigmented skin lesions. Some patients may also have a peripheral neuropathy (summary by Lee et al., 2017).
Brown-Vialetto-Van Laere syndrome
MedGen UID:
163239
Concept ID:
C0796274
Disease or Syndrome
Riboflavin transporter deficiency neuronopathy is a disorder that affects nerve cells (neurons). Affected individuals typically have hearing loss caused by nerve damage in the inner ear (sensorineural hearing loss) and signs of damage to other nerves.In addition to nerves in the inner ear, riboflavin transporter deficiency neuronopathy involves nerves found in the part of the brain that is connected to the spinal cord (the brainstem), specifically in a region of the brainstem known as the pontobulbar region. Damage to these nerves causes paralysis of the muscles controlled by them, a condition called pontobulbar palsy. Nerves in the pontobulbar region help control several voluntary muscle activities, including breathing, speaking, and moving the limbs. As a result of pontobulbar palsy, people with riboflavin transporter deficiency neuronopathy can have breathing problems; slurred speech; and muscle weakness in the face, neck, shoulders, and limbs. Affected individuals can also have muscle stiffness (spasticity) and exaggerated reflexes.The age at which riboflavin transporter deficiency neuronopathy begins varies from infancy to young adulthood. When the condition begins in infancy, the first symptom is often breathing problems caused by nerve damage, which can be life-threatening. When the condition begins in children or young adults, sensorineural hearing loss usually occurs first, followed by signs of pontobulbar palsy.If not treated, the signs and symptoms of riboflavin transporter deficiency neuronopathy worsen over time. Severe breathing problems and respiratory infections are the usual cause of death in people with this condition. Without treatment, affected infants typically survive less than one year. However, those who develop the condition after age 4 often survive more than 10 years.Riboflavin transporter deficiency neuronopathy encompasses two conditions that were once considered distinct disorders: Brown-Vialetto-Van Laere syndrome (BVVLS) and Fazio-Londe disease. The two conditions have similar signs and symptoms, but Fazio-Londe disease does not include sensorineural hearing loss. Because these two conditions share a genetic cause and have overlapping features, researchers determined that they are forms of a single disorder.
Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy
MedGen UID:
266127
Concept ID:
C1272305
Disease or Syndrome
CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy) is characterized by mid-adult onset of recurrent ischemic stroke, cognitive decline progressing to dementia, a history of migraine with aura, mood disturbance, apathy, and diffuse white matter lesions and subcortical infarcts on neuroimaging.
Permanent neonatal diabetes mellitus
MedGen UID:
371484
Concept ID:
C1833104
Disease or Syndrome
Permanent neonatal diabetes mellitus (PNDM) is characterized by the onset of hyperglycemia within the first six months of life (mean age: 7 weeks; range: birth to 26 weeks). The diabetes mellitus is associated with partial or complete insulin deficiency. Clinical manifestations at the time of diagnosis include intrauterine growth retardation, hyperglycemia, glycosuria, osmotic polyuria, severe dehydration, and failure to thrive. Therapy with insulin corrects the hyperglycemia and results in dramatic catch-up growth. The course of PNDM varies by genotype.
Neuropathy, with paraprotein in serum, cerebrospinal fluid and urine
MedGen UID:
371758
Concept ID:
C1834180
Disease or Syndrome
Amyotrophy, hereditary neuralgic
MedGen UID:
320318
Concept ID:
C1834304
Disease or Syndrome
Hereditary neuralgic amyotrophy (HNA) is characterized by sudden onset of severe, non-abating pain in the shoulder girdle and/or the upper limb and amyotrophy (muscle wasting or atrophy) that typically develops within two weeks of the onset of severe pain. Other sites may also be involved in an attack; sensory symptoms, present in the majority of affected individuals, can include hypoesthesia (decreased sensation) and paresthesias. Onset is typically in the second or third decade (median age 28 years). Although attacks appear to become less frequent with age, residual deficits accumulate with subsequent attacks. In some families, non-neurologic findings (characteristic craniofacial features, bifid uvula or cleft palate, short stature, and/or partial syndactyly of the fingers or toes) are present.
Neuronopathy, distal hereditary motor, type viia
MedGen UID:
322474
Concept ID:
C1834703
Disease or Syndrome
Distal hereditary motor neuronopathy type VIIa is an autosomal dominant neurologic disorder characterized by onset in the second decade of progressive distal muscle wasting and weakness affecting the upper and lower limbs and resulting in walking difficulties and hand grip. There is significant muscle atrophy of the hands and lower limbs. The disorder is associated with vocal cord paresis due to involvement of the tenth cranial nerve (summary by Barwick et al., 2012). For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN, see HMN type I (HMN1; 182960).
Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome
MedGen UID:
332113
Concept ID:
C1836033
Disease or Syndrome
CEDNIK (cerebral dysgenesis, neuropathy, ichthyosis, and keratoderma) syndrome refers to a unique constellation of clinical manifestations including microcephaly, severe neurologic impairment, psychomotor retardation, failure to thrive, and facial dysmorphism, as well as palmoplantar keratoderma and late-onset ichthyosis. Brain magnetic resonance imaging (MRI) shows various degrees of cerebral dysgenesis including absence of corpus callosum and cortical dysplasia. The syndrome has been found to be uniformly fatal between the ages of 5 and 12 years (Fuchs-Telem et al., 2011).
Mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma
MedGen UID:
322893
Concept ID:
C1836330
Disease or Syndrome
MEDNIK is a severe multisystem disorder characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It shows phenotypic similarities to CEDNIK (609528) (summary by Montpetit et al., 2008).
Spinocerebellar ataxia 8
MedGen UID:
332457
Concept ID:
C1837454
Disease or Syndrome
SCA8 is a slowly progressive ataxia with disease onset typically occurring in adulthood. Onset ranges from age one to 73 years. The progression is typically over decades regardless of the age of onset. Common initial symptoms are scanning dysarthria with a characteristic drawn-out slowness of speech and gait instability; life span is typically not shortened. Some individuals present with nystagmus, dysmetric saccades and, rarely, ophthalmoplegia. Tendon reflex hyperreflexity and extensor plantar responses are present in some severely affected individuals. Life span is typically not shortened.
Neuropathy, hereditary sensory and autonomic, adult-onset, with anosmia
MedGen UID:
324809
Concept ID:
C1837492
Disease or Syndrome
Leber hereditary optic neuropathy with dystonia
MedGen UID:
333240
Concept ID:
C1839040
Disease or Syndrome
Bulbo-spinal atrophy X-linked
MedGen UID:
333282
Concept ID:
C1839259
Disease or Syndrome
Spinal and bulbar muscular atrophy (SBMA) is a gradually progressive neuromuscular disorder in which degeneration of lower motor neurons results in muscle weakness, muscle atrophy, and fasciculations. SBMA occurs only in males. Affected individuals often show gynecomastia, testicular atrophy, and reduced fertility as a result of mild androgen insensitivity.
Charcot-Marie-Tooth disease, recessive intermediate A
MedGen UID:
334012
Concept ID:
C1842197
Disease or Syndrome
Autosomal recessive intermediate Charcot-Marie-Tooth disease A (CMTRIA) is a peripheral neuropathy characterized by distal sensory impairment predominantly affecting the lower limbs and resulting in walking difficulties due to muscle weakness and atrophy. The upper limbs may also be affected. Electrophysiologic studies and sural nerve biopsy show mixed features of demyelinating and axonal neuropathy. Onset is usually in early childhood (summary by Senderek et al., 2003). Genetic Heterogeneity of Recessive Intermediate Charcot-Marie-Tooth Disease See also CMTRIB (613641), caused by mutation in the KARS gene (601421) on chromosome 16q; CMTRIC (615376), caused by mutation in the PLEKHG5 gene (611101) on chromosome 1p36; and CMTRID (616039), caused by mutation in the COX6A1 gene (602072) on chromosome 12q24.
Hypomyelinating leukodystrophy 7
MedGen UID:
375119
Concept ID:
C1843200
Disease or Syndrome
The Pol III-related leukodystrophies, hypomyelinating leukodystrophies with some shared features on brain MRI, are characterized by varying combinations of the three major clinical findings: Motor dysfunction (progressive gait abnormalities due to spasticity, cerebellar ataxia, and/or tremor). Abnormal dentition (delayed dentition, hypodontia, oligodontia, and abnormally placed or shaped teeth). Hypogonadotropic hypogonadism. The five overlapping clinical phenotypes (described as distinct entities before their molecular basis was known) include: Hypomyelination, hypodontia, hypogonadotropic hypogonadism (4H syndrome); Ataxia, delayed dentition, and hypomyelination (ADDH); Tremor-ataxia with central hypomyelination (TACH); Leukodystrophy with oligodontia (LO); and Hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum (HCAHC). Age of onset ranges from infancy to adolescence.
Visceral myopathy familial with external ophthalmoplegia
MedGen UID:
336376
Concept ID:
C1848586
Disease or Syndrome
Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic).When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction.Intestinal pseudo-obstruction leads to a buildup of partially digested food in the intestines. This buildup can cause abdominal swelling (distention) and pain, nausea, vomiting, and constipation or diarrhea. Affected individuals experience loss of appetite and impaired ability to absorb nutrients, which may lead to malnutrition. These symptoms resemble those of an intestinal blockage (obstruction), but in intestinal pseudo-obstruction no blockage is found.Some people with intestinal pseudo-obstruction have bladder dysfunction such as an inability to pass urine. Other features of this condition may include decreased muscle tone (hypotonia) or stiffness (spasticity), weakness in the muscles that control eye movement (ophthalmoplegia), intellectual disability, seizures, unusual facial features, or recurrent infections.Intestinal pseudo-obstruction can occur at any time of life. Its symptoms may range from mild to severe. Some affected individuals may require nutritional support. Depending on the severity of the condition, such support may include nutritional supplements, a feeding tube, or intravenous feedings (parenteral nutrition).
Thalidomide susceptibility
MedGen UID:
341323
Concept ID:
C1848866
Finding
Ataxia, spastic, childhood-onset, autosomal recessive, with optic atrophy and mental retardation
MedGen UID:
376528
Concept ID:
C1849156
Disease or Syndrome
This progressive neurodegenerative disorder is characterized by early childhood onset of spastic ataxia with mental retardation, cerebellar signs, and variable optic atrophy (Hogan and Bauman, 1977).
Neuropathy, painful
MedGen UID:
342490
Concept ID:
C1850383
Disease or Syndrome
Autosomal dominant optic atrophy plus syndrome
MedGen UID:
377632
Concept ID:
C1852267
Disease or Syndrome
Syndromic optic atrophy, also known as DOA+ syndrome, is a neurologic disorder characterized most commonly by an insidious onset of visual loss and sensorineural hearing loss in childhood with variable presentation of other clinical manifestations including progressive external ophthalmoplegia (PEO), muscle cramps, hyperreflexia, and ataxia. There appears to be a wide range of intermediate phenotypes (Yu-Wai-Man et al., 2010).
Neuropathy, hereditary motor and sensory, russe type
MedGen UID:
343122
Concept ID:
C1854449
Disease or Syndrome
HMSNR is an autosomal recessive progressive complex peripheral neuropathy characterized by onset in the first decade of distal lower limb weakness and muscle atrophy resulting in walking difficulties. Distal impairment of the upper limbs usually occurs later, as does proximal lower limb weakness. There is distal sensory impairment, with pes cavus and areflexia. Laboratory studies suggest that it is a myelinopathy resulting in reduced nerve conduction velocities in the demyelinating range as well as a length-dependent axonopathy (summary by Sevilla et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive hereditary motor and sensory neuropathy, also known as Charcot-Marie-Tooth disease, see CMT4A (214400).
Motor neuropathy peripheral with dysautonomia
MedGen UID:
381527
Concept ID:
C1854961
Disease or Syndrome
Mast syndrome
MedGen UID:
343325
Concept ID:
C1855346
Disease or Syndrome
Mast syndrome is an autosomal recessive complicated form of hereditary spastic paraplegia in which progressive spastic paraparesis is associated in more advanced cases with cognitive decline, dementia, and other neurologic abnormalities. Symptom onset usually occurs in adulthood, and the disorder is progressive with variable severity. Brain imaging shows thinning of the corpus callosum. The disorder occurs with high frequency in the Old Order Amish (summary by Simpson et al., 2003). For a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see SPG5A (270800).
Dysautonomia like disorder
MedGen UID:
347385
Concept ID:
C1857153
Disease or Syndrome
Groll Hirschowitz syndrome
MedGen UID:
347426
Concept ID:
C1857338
Disease or Syndrome
Cranial nerves, recurrent paresis of
MedGen UID:
387846
Concept ID:
C1857530
Disease or Syndrome
Neuropathy, hereditary motor and sensory, Okinawa type
MedGen UID:
346886
Concept ID:
C1858338
Disease or Syndrome
HMSNO is an autosomal dominant neurodegenerative disorder characterized by young adult onset of proximal or distal muscle weakness and atrophy, muscle cramps, and fasciculations, with later onset of distal sensory impairment. The disorder is slowly progressive and clinically resembles amyotrophic lateral sclerosis (ALS; 105400) (summary by Ishiura et al., 2012).
Neuropathy, hereditary motor and sensory, with deafness, mental retardation, and absent sensory large myelinated fibers
MedGen UID:
347824
Concept ID:
C1859206
Disease or Syndrome
Triosephosphate isomerase deficiency
MedGen UID:
349893
Concept ID:
C1860808
Disease or Syndrome
Triosephosphate isomerase deficiency is an autosomal recessive multisystem disorder characterized by congenital hemolytic anemia, and progressive neuromuscular dysfunction beginning in early childhood. Many patients die from respiratory failure in childhood. The neurologic syndrome is variable, but usually includes lower motor neuron dysfunction with hypotonia, muscle weakness and atrophy, and hyporeflexia. Some patients may show additional signs such as dystonic posturing and/or spasticity. Laboratory studies show intracellular accumulation of dihydroxyacetone phosphate (DHAP), particularly in red blood cells (summary by Fermo et al., 2010).
Stiff skin syndrome
MedGen UID:
348877
Concept ID:
C1861456
Disease or Syndrome
Stiff skin syndrome is characterized by hard, thick skin, usually over the entire body, which limits joint mobility and causes flexion contractures. Other occasional findings include lipodystrophy and muscle weakness (Loeys et al., 2010). Patients with similar phenotypes involving stiff skin have been described; see, e.g., familial progressive scleroderma (181750), symmetric lipomatosis (151800), and congenital fascial dystrophy (228020).
Distal hereditary motor neuronopathy type 2B
MedGen UID:
382017
Concept ID:
C2608087
Disease or Syndrome
Distal hereditary motor neuropathy, type II is a progressive disorder that affects nerve cells in the spinal cord. It results in muscle weakness and affects movement, primarily in the legs.Onset of distal hereditary motor neuropathy, type II ranges from the teenage years through mid-adulthood. The initial symptoms of the disorder are cramps or weakness in the muscles of the big toe and later, the entire foot. Over a period of approximately 5 to 10 years, affected individuals experience a gradual loss of muscle tissue (atrophy) in the lower legs. They begin to have trouble walking and running, and eventually may have complete paralysis of the lower legs. The thigh muscles may also be affected, although generally this occurs later and is less severe.Some individuals with distal hereditary motor neuropathy, type II have weakening of the muscles in the hands and forearms. This weakening is less pronounced than in the lower limbs and does not usually result in paralysis.
Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria)
MedGen UID:
413170
Concept ID:
C2749864
Disease or Syndrome
SUCLA2-related mitochondrial DNA (mtDNA) depletion syndrome, encephalomyopathic form with methylmalonic aciduria is characterized by onset of the following features in infancy or childhood (median age of onset 2 months; range of onset birth to 6 years): psychomotor retardation, hypotonia, dystonia, muscular atrophy, sensorineural hearing impairment, postnatal growth retardation, and feeding difficulties. Other less frequent features include distinctive facial features, contractures, kyphoscoliosis, gastroesophageal reflux, ptosis, choreoathetosis, ophthalmoplegia, and epilepsy (infantile spasms or generalized convulsions). The median survival is 20 years; approximately 30% of affected individuals succumb during childhood. Affected individuals may have hyperintensities in the basal ganglia, cerebral atrophy, and leukoencephalopathy on head MRI. Elevation of methylmalonic acid (MMA) in the urine and plasma is found in a vast majority of affected individuals, although at levels that are far below those typically seen in individuals with classic methylmalonic aciduria.
Hereditary sensory and autonomic neuropathy type IIA
MedGen UID:
416701
Concept ID:
C2752089
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.
Distal hereditary motor neuronopathy type 2C
MedGen UID:
461969
Concept ID:
C3150619
Disease or Syndrome
Leukoencephalopathy with dystonia and motor neuropathy
MedGen UID:
462340
Concept ID:
C3150990
Disease or Syndrome
Mental retardation, X-linked, syndromic, chudley-schwartz type
MedGen UID:
477102
Concept ID:
C3275471
Disease or Syndrome
Nuclearly-encoded mitochondrial complex V (ATP synthase) deficiency 3
MedGen UID:
481338
Concept ID:
C3279708
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type IIC
MedGen UID:
481798
Concept ID:
C3280168
Disease or Syndrome
Hereditary sensory and autonomic neuropathy type II (HSAN2) is characterized by progressively reduced sensation to pain, temperature, and touch. Onset can be at birth and is often before puberty. The sensory deficit is predominantly distal with the lower limbs more severely affected than the upper limbs. Over time sensory function becomes severely reduced. Unnoticed injuries and neuropathic skin promote ulcerations and infections that result in spontaneous amputation of digits or the need for surgical amputation. Osteomyelitis is common. Painless fractures can complicate the disease. Autonomic disturbances are variable and can include hyperhidrosis, tonic pupils, and urinary incontinence in those with more advanced disease.
Peripheral neuropathy, myopathy, hoarseness, and hearing loss
MedGen UID:
482186
Concept ID:
C3280556
Disease or Syndrome
Coenzyme Q10 deficiency, primary, 2
MedGen UID:
766268
Concept ID:
C3553354
Disease or Syndrome
Mitochondrial pyruvate carrier deficiency
MedGen UID:
766521
Concept ID:
C3553607
Disease or Syndrome
Mitochondrial pyruvate carrier deficiency is an autosomal recessive metabolic disorder characterized by delayed psychomotor development and lactic acidosis with a normal lactate/pyruvate ratio resulting from impaired mitochondrial pyruvate oxidation (summary by Bricker et al., 2012).
Combined oxidative phosphorylation deficiency 11
MedGen UID:
766981
Concept ID:
C3554067
Disease or Syndrome
COXPD11 is a severe multisystemic autosomal recessive disorder characterized by neonatal hypotonia and lactic acidosis. Affected individuals may have respiratory insufficiency, foot deformities, or seizures, and all reported patients have died in infancy. Biochemical studies show deficiencies of multiple mitochondrial respiratory enzymes (summary by Garcia-Diaz et al., 2012). For a discussion of genetic heterogeneity of combined oxidative phosphorylation deficiency, see COXPD1 (609060).
Congenital disorder of deglycosylation
MedGen UID:
815321
Concept ID:
C3808991
Disease or Syndrome
Congenital disorder of deglycosylation is an autosomal recessive multisystem disorder characterized by global developmental delay, hypotonia, abnormal involuntary movements, and alacrima or poor tear production. Other common features include microcephaly, intractable seizures, abnormal eye movements, and evidence of liver dysfunction. Liver biopsy shows cytoplasmic accumulation of storage material in vacuoles (summary by Enns et al., 2014). For a discussion of the classification of congenital disorders of glycosylation, see CDG1A (212065).
RHIZOMELIC CHONDRODYSPLASIA PUNCTATA, TYPE 5
MedGen UID:
900333
Concept ID:
C4225237
Disease or Syndrome
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29
MedGen UID:
908570
Concept ID:
C4225361
Disease or Syndrome
Epilepsy, progressive myoclonic 5
MedGen UID:
909873
Concept ID:
CN226157
Disease or Syndrome
Progressive myoclonic epilepsy is a neurodegenerative disorder characterized by myoclonic seizures and variable neurologic symptoms, including cognitive decline and persistent movement abnormalities (Bird and Shaw, 1978). For a discussion of genetic heterogeneity of progressive myoclonic epilepsy, see EPM1A (254800).
Ataxia-oculomotor apraxia 4
MedGen UID:
833016
Concept ID:
CN228595
Disease or Syndrome
Ataxia-oculomotor apraxia-4 is an autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. Additional features include oculomotor apraxia and peripheral neuropathy. Some patients may show cognitive impairment. The disorder is progressive, and most patients become wheelchair-bound in the second or third decade (summary by Bras et al., 2015). For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (208920).
Familial visceral amyloidosis, Ostertag type
MedGen UID:
82799
Concept ID:
C0268389
Congenital Abnormality
Primary localized cutaneous amyloidosis 1
MedGen UID:
75675
Concept ID:
C0268398
Congenital Abnormality
Primary localized cutaneous amyloidosis is characterized clinically by pruritus and skin scratching and histologically by the finding of deposits of amyloid staining on keratinous debris in the papillary dermis (summary by Tanaka et al., 2009). Genetic Heterogeneity of Primary Localized Cutaneous Amyloidosis Primary localized cutaneous amyloidosis-2 (613955) is caused by heterozygous mutation in the IL31RA gene (609510) on chromosome 5q11.2.
Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorinural hearing loss
MedGen UID:
318633
Concept ID:
C1832466
Disease or Syndrome
Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS) is an autosomal dominant neurologic disorder characterized by early-childhood onset of recurrent episodes of acute ataxic encephalopathy associated with febrile illnesses. These acute episodes tend to decrease with time, but the neurologic sequelae are permanent and progressive, resulting in gait and limb ataxia and areflexia. Affected individuals also develop progressive visual impairment due to optic atrophy and sensorineural hearing loss beginning in childhood. More variable features include abnormal eye movements, pes cavus, and dysphagia (summary by Demos et al., 2014).

Recent clinical studies

Etiology

Nolan RC, Raynor AJ, Berry NM, May EJ
Can J Diabetes 2016 Dec;40(6):576-579. Epub 2016 Sep 19 doi: 10.1016/j.jcjd.2016.05.013. PMID: 27658764
Yu S, Chen Y, Hou X, Xu D, Che K, Li C, Yan S, Wang Y, Wang B
Mol Neurobiol 2016 Mar;53(2):1045-51. Epub 2015 Jan 12 doi: 10.1007/s12035-014-9075-0. PMID: 25579387
Klein SE, Chu J, McCormick JJ, Johnson JE
Foot Ankle Int 2015 Sep;36(9):1058-63. Epub 2015 May 12 doi: 10.1177/1071100715583352. PMID: 25967255
Al-Zuhairy A, Schrøder HD, Plesner T, Abildgaard N, Sindrup SH
J Neurol Sci 2015 Feb 15;349(1-2):60-4. Epub 2014 Dec 26 doi: 10.1016/j.jns.2014.12.026. PMID: 25582978
Aubert CE, Michel PL, Gillery P, Jaisson S, Fonfrede M, Morel F, Hartemann A, Bourron O
Diabetes Metab Res Rev 2014 Nov;30(8):679-85. doi: 10.1002/dmrr.2529. PMID: 24449227

Diagnosis

Bindu PS, Govindaraju C, Sonam K, Nagappa M, Chiplunkar S, Kumar R, Gayathri N, Bharath MM, Arvinda HR, Sinha S, Khan NA, Govindaraj P, Nunia V, Paramasivam A, Thangaraj K, Taly AB
Mitochondrion 2016 Mar;27:1-5. Epub 2016 Jan 4 doi: 10.1016/j.mito.2015.12.009. PMID: 26762927
Klein SE, Chu J, McCormick JJ, Johnson JE
Foot Ankle Int 2015 Sep;36(9):1058-63. Epub 2015 May 12 doi: 10.1177/1071100715583352. PMID: 25967255
Peng L, Ye X, Zhou Y, Zhang J, Zhao Q
Support Care Cancer 2015 Sep;23(9):2813-24. Epub 2015 Feb 13 doi: 10.1007/s00520-015-2648-2. PMID: 25676487
Al-Zuhairy A, Schrøder HD, Plesner T, Abildgaard N, Sindrup SH
J Neurol Sci 2015 Feb 15;349(1-2):60-4. Epub 2014 Dec 26 doi: 10.1016/j.jns.2014.12.026. PMID: 25582978
Horga A, Pitceathly RD, Blake JC, Woodward CE, Zapater P, Fratter C, Mudanohwo EE, Plant GT, Houlden H, Sweeney MG, Hanna MG, Reilly MM
Brain 2014 Dec;137(Pt 12):3200-12. Epub 2014 Oct 3 doi: 10.1093/brain/awu279. PMID: 25281868Free PMC Article

Therapy

Yu S, Chen Y, Hou X, Xu D, Che K, Li C, Yan S, Wang Y, Wang B
Mol Neurobiol 2016 Mar;53(2):1045-51. Epub 2015 Jan 12 doi: 10.1007/s12035-014-9075-0. PMID: 25579387
Peng L, Ye X, Zhou Y, Zhang J, Zhao Q
Support Care Cancer 2015 Sep;23(9):2813-24. Epub 2015 Feb 13 doi: 10.1007/s00520-015-2648-2. PMID: 25676487
Rosenberg CJ, Watson JC
Prosthet Orthot Int 2015 Feb;39(1):17-28. doi: 10.1177/0309364614542266. PMID: 25614498
Kiwuwa-Muyingo S, Kikaire B, Mambule I, Musana H, Musoro G, Gilks CF, Levin JB, Walker AS
AIDS 2014 Nov 13;28(17):2579-88. doi: 10.1097/QAD.0000000000000447. PMID: 25574960
Tumusiime DK, Venter F, Musenge E, Stewart A
BMC Public Health 2014 Dec 19;14:1306. doi: 10.1186/1471-2458-14-1306. PMID: 25526665Free PMC Article

Prognosis

Nolan RC, Raynor AJ, Berry NM, May EJ
Can J Diabetes 2016 Dec;40(6):576-579. Epub 2016 Sep 19 doi: 10.1016/j.jcjd.2016.05.013. PMID: 27658764
Abd-Elsayed A, Schiavoni N, Sachdeva H
J Clin Anesth 2016 Feb;28:74-7. Epub 2015 Sep 26 doi: 10.1016/j.jclinane.2015.08.011. PMID: 26395919
Peng L, Ye X, Zhou Y, Zhang J, Zhao Q
Support Care Cancer 2015 Sep;23(9):2813-24. Epub 2015 Feb 13 doi: 10.1007/s00520-015-2648-2. PMID: 25676487
Kiwuwa-Muyingo S, Kikaire B, Mambule I, Musana H, Musoro G, Gilks CF, Levin JB, Walker AS
AIDS 2014 Nov 13;28(17):2579-88. doi: 10.1097/QAD.0000000000000447. PMID: 25574960
Horga A, Pitceathly RD, Blake JC, Woodward CE, Zapater P, Fratter C, Mudanohwo EE, Plant GT, Houlden H, Sweeney MG, Hanna MG, Reilly MM
Brain 2014 Dec;137(Pt 12):3200-12. Epub 2014 Oct 3 doi: 10.1093/brain/awu279. PMID: 25281868Free PMC Article

Clinical prediction guides

Janahi NM, Santos D, Blyth C, Bakhiet M, Ellis M
Immunol Lett 2015 Nov;168(1):73-9. Epub 2015 Sep 16 doi: 10.1016/j.imlet.2015.09.009. PMID: 26386377
Lee CC, Perkins BA, Kayaniyil S, Harris SB, Retnakaran R, Gerstein HC, Zinman B, Hanley AJ
Diabetes Care 2015 May;38(5):793-800. Epub 2015 Feb 9 doi: 10.2337/dc14-2585. PMID: 25665810
Kiwuwa-Muyingo S, Kikaire B, Mambule I, Musana H, Musoro G, Gilks CF, Levin JB, Walker AS
AIDS 2014 Nov 13;28(17):2579-88. doi: 10.1097/QAD.0000000000000447. PMID: 25574960
Horga A, Pitceathly RD, Blake JC, Woodward CE, Zapater P, Fratter C, Mudanohwo EE, Plant GT, Houlden H, Sweeney MG, Hanna MG, Reilly MM
Brain 2014 Dec;137(Pt 12):3200-12. Epub 2014 Oct 3 doi: 10.1093/brain/awu279. PMID: 25281868Free PMC Article
Aubert CE, Michel PL, Gillery P, Jaisson S, Fonfrede M, Morel F, Hartemann A, Bourron O
Diabetes Metab Res Rev 2014 Nov;30(8):679-85. doi: 10.1002/dmrr.2529. PMID: 24449227

Recent systematic reviews

Yu S, Chen Y, Hou X, Xu D, Che K, Li C, Yan S, Wang Y, Wang B
Mol Neurobiol 2016 Mar;53(2):1045-51. Epub 2015 Jan 12 doi: 10.1007/s12035-014-9075-0. PMID: 25579387
Peng L, Ye X, Zhou Y, Zhang J, Zhao Q
Support Care Cancer 2015 Sep;23(9):2813-24. Epub 2015 Feb 13 doi: 10.1007/s00520-015-2648-2. PMID: 25676487
Rosenberg CJ, Watson JC
Prosthet Orthot Int 2015 Feb;39(1):17-28. doi: 10.1177/0309364614542266. PMID: 25614498
White CM, van Doorn PA, Garssen MP, Stockley RC
Cochrane Database Syst Rev 2014 Dec 18;(12):CD008146. doi: 10.1002/14651858.CD008146.pub2. PMID: 25519471
Velchuru VR, Domajnko B, deSouza A, Marecik S, Prasad LM, Park JJ, Abcarian H
Dis Colon Rectum 2014 Feb;57(2):187-93. doi: 10.1097/DCR.0000000000000037. PMID: 24401880

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