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Hammertoe

MedGen UID:
209712
Concept ID:
C1136179
Anatomical Abnormality
Synonyms: Hammer toe; Hammertoes
SNOMED CT: Hammer toe (122481008)
 
HPO: HP:0001765

Definition

Hyperextension of the metatarsal-phalangeal joint with hyperflexion of the proximal interphalangeal (PIP) joint. [from HPO]

Conditions with this feature

Dejerine-Sottas disease
MedGen UID:
3710
Concept ID:
C0011195
Disease or Syndrome
Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait. Some patients have generalized hypotonia in infancy. Other features may include pes cavus, scoliosis, and sensory ataxia. Nerve conduction velocities are severely decreased (sometimes less than 10 m/s), and sural nerve biopsy shows severe loss of myelinated fibers (summary by Baets et al., 2011).
Marfan syndrome
MedGen UID:
44287
Concept ID:
C0024796
Disease or Syndrome
Marfan syndrome, a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease. Cardinal manifestations involve the ocular, skeletal, and cardiovascular systems. Ocular findings include myopia (the most common ocular feature); ectopia lentis (seen in approximately 60% of affected individuals); and an increased risk for retinal detachment, glaucoma, and early cataracts. Skeletal system manifestations include bone overgrowth and joint laxity; disproportionately long extremities for the size of the trunk (dolichostenomelia); overgrowth of the ribs that can push the sternum in (pectus excavatum) or out (pectus carinatum); and scoliosis that ranges from mild to severe and progressive. The major morbidity and early mortality in the Marfan syndrome relate to the cardiovascular system and include dilatation of the aorta at the level of the sinuses of Valsalva (predisposing to aortic tear and rupture), mitral valve prolapse with or without regurgitation, tricuspid valve prolapse, and enlargement of the proximal pulmonary artery. Severe and prolonged regurgitation of the mitral and/or aortic valve can predispose to left ventricular dysfunction and occasionally heart failure. With proper management, the life expectancy of someone with Marfan syndrome approximates that of the general population.
Hereditary spastic paraplegia
MedGen UID:
20844
Concept ID:
C0037773
Disease or Syndrome
The hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous disorders characterized by lower extremity spasticity and weakness (occurring in variable proportion). When symptoms begin after childhood, they usually progress slowly and steadily. When symptoms begin in very early childhood, they may be non-progressive and resemble spastic diplegic cerebral palsy. HSP is classified as "uncomplicated" if neurologic impairment is limited to lower extremity spastic weakness, hypertonic urinary bladder disturbance, and mild diminution of lower extremity vibration sensation. HSP is classified as "complicated" if the impairment present in uncomplicated HSP is accompanied by other systemic or neurologic abnormalities such as ataxia, seizures, cognitive impairment, dementia, amyotrophy, extrapyramidal disturbance, or peripheral neuropathy (in the absence of other causes for these additional features). Neurologic examination of individuals with uncomplicated HSP demonstrates variable degrees of increased muscle tone (spasticity) particularly in the hamstrings, quadriceps, gastrocnemius-soleus, and adductor muscles; weakness in the iliopsoas, hamstring, and tibialis anterior muscles; hyperreflexia at the patella and ankles; often (though not always) mildly reduced vibration sensation in the toes; extensor plantar responses; and spastic gait.
Smith-Lemli-Opitz syndrome
MedGen UID:
61231
Concept ID:
C0175694
Disease or Syndrome
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple anomaly syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth retardation, microcephaly, moderate to severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide and individuals have been described with normal development and only minor malformations.
Roussy-Lévy syndrome
MedGen UID:
64430
Concept ID:
C0205713
Disease or Syndrome
Charcot-Marie-Tooth disease is a group of progressive disorders that affect the peripheral nerves. Peripheral nerves connect the brain and spinal cord to muscles and to sensory cells that detect sensations such as touch, pain, heat, and sound. Damage to the peripheral nerves can result in loss of sensation and wasting (atrophy) of muscles in the feet, legs, and hands.Charcot-Marie-Tooth disease usually becomes apparent in adolescence or early adulthood, but onset may occur anytime from early childhood through late adulthood. Symptoms of Charcot-Marie-Tooth disease vary in severity, even among members of the same family. Some people never realize they have the disorder, but most have a moderate amount of physical disability. A small percentage of people experience severe weakness or other problems which, in rare cases, can be life-threatening. In most affected individuals, however, Charcot-Marie-Tooth disease does not affect life expectancy.Typically, the earliest symptoms of Charcot-Marie-Tooth disease involve balance difficulties, clumsiness, and muscle weakness in the feet. Affected individuals may have foot abnormalities such as high arches (pes cavus), flat feet (pes planus), or curled toes (hammer toes). They often have difficulty flexing the foot or walking on the heel of the foot. These difficulties may cause a higher than normal step (or gait) and increase the risk of ankle injuries and tripping.As the disease progresses, muscles in the lower legs usually weaken, but leg and foot problems rarely require the use of a wheelchair. Affected individuals may also develop weakness in the hands, causing difficulty with daily activities such as writing, fastening buttons, and turning doorknobs. People with this disorder typically experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs, but occasionally feel aching or burning sensations. In some cases, affected individuals experience gradual hearing loss, deafness, or loss of vision.There are several types of Charcot-Marie-Tooth disease. Type 1 Charcot-Marie-Tooth disease (CMT1) is characterized by abnormalities in myelin, the fatty substance that covers nerve cells, protecting them and helping to conduct nerve impulses. These abnormalities slow the transmission of nerve impulses. Type 2 Charcot-Marie-Tooth disease (CMT2) is characterized by abnormalities in the fiber, or axon, that extends from a nerve cell body and transmits nerve impulses. These abnormalities reduce the strength of the nerve impulse. Type 4 Charcot-Marie-Tooth disease (CMT4) affects either the axon or myelin and is distinguished from the other types by its pattern of inheritance. In intermediate forms of Charcot-Marie-Tooth disease, the nerve impulses are both slowed and reduced in strength, probably due to abnormalities in both axons and myelin. Type X Charcot-Marie-Tooth disease (CMTX) is caused by mutations in a gene on the X chromosome, one of the two sex chromosomes. Within the various types of Charcot-Marie-Tooth disease, subtypes (such as CMT1A, CMT1B, CMT2A, CMT4A, and CMTX1) are distinguished by the specific gene that is altered.Sometimes other, more historical names are used to describe this disorder. For example, Roussy-Levy syndrome is a form of Charcot-Marie-Tooth disease defined by the additional feature of rhythmic shaking (tremors). Dejerine-Sottas syndrome is a term sometimes used to describe a severe, early childhood form of Charcot-Marie-Tooth disease; it is also sometimes called Charcot-Marie-Tooth disease type 3 (CMT3). Depending on the specific gene that is altered, this severe, early onset form of the disorder may also be classified as CMT1 or CMT4. CMTX5 is also known as Rosenberg-Chutorian syndrome. Some researchers believe that this condition is not actually a form of Charcot-Marie-Tooth disease. Instead, they classify it as a separate disorder characterized by peripheral nerve problems, deafness, and vision loss.
Hecht syndrome
MedGen UID:
78540
Concept ID:
C0265226
Disease or Syndrome
Charcot-Marie-Tooth disease, type IA
MedGen UID:
75727
Concept ID:
C0270911
Disease or Syndrome
Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a demyelinating peripheral neuropathy characterized by distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop. Affected individuals usually become symptomatic between age five and 25 years. Fewer than 5% of individuals become wheelchair dependent. Life span is not shortened.
Charcot-Marie-Tooth disease, demyelinating, type 1b
MedGen UID:
124377
Concept ID:
C0270912
Disease or Syndrome
Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a demyelinating peripheral neuropathy characterized by distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop. Affected individuals usually become symptomatic between age five and 25 years. Fewer than 5% of individuals become wheelchair dependent. Life span is not shortened.
Bifunctional peroxisomal enzyme deficiency
MedGen UID:
137982
Concept ID:
C0342870
Pathologic Function
D-bifunctional protein deficiency is a disorder of peroxisomal fatty acid beta-oxidation. See also peroxisomal acyl-CoA oxidase deficiency (264470), caused by mutation in the ACOX1 gene (609751) on chromosome 17q25. The clinical manifestations of these 2 deficiencies are similar to those of disorders of peroxisomal assembly, including X-linked adrenoleukodystrophy (ALD; 300100), Zellweger cerebrohepatorenal syndrome (see 214100) and neonatal adrenoleukodystrophy (NALD; see 601539) (Watkins et al., 1995). DBP deficiency has been classified into 3 subtypes depending upon the deficient enzyme activity. Type I is a deficiency of both 2-enoyl-CoA hydratase and 3-hydroxyacyl-CoA dehydrogenase; type II is a deficiency of hydratase activity alone; and type III is a deficiency of dehydrogenase activity alone. Virtually all patients with types I, II, and III have a severe phenotype characterized by infantile-onset of hypotonia, seizures, and abnormal facial features, and most die before age 2 years. McMillan et al. (2012) proposed a type IV deficiency on the basis of less severe features; these patients have a phenotype reminiscent of Perrault syndrome (PRLTS1; 233400). Pierce et al. (2010) noted that Perrault syndrome and DBP deficiency overlap clinically and suggested that DBP deficiency may be underdiagnosed.
Troyer syndrome
MedGen UID:
97950
Concept ID:
C0393559
Disease or Syndrome
Troyer syndrome is characterized by progressive spastic paraparesis, dysarthria, and pseudobulbar palsy; distal amyotrophy; motor and cognitive delays; short stature; and subtle skeletal abnormalities. Most affected children exhibit delays in walking and talking followed by slow deterioration in both gait and speech. Emotional lability and affective disorders, such as inappropriate euphoria and/or crying, are common. Mild cerebellar signs are common. The most severely affected individuals have choreoathetosis. Life expectancy is normal.
Hereditary Autosomal Dominant Spastic Paraplegia
MedGen UID:
155594
Concept ID:
C0751602
Disease or Syndrome
Charcot-Marie-Tooth disease type 2D
MedGen UID:
316946
Concept ID:
C1832274
Disease or Syndrome
GARS-associated axonal neuropathy (Charcot-Marie-Tooth neuropathy type 2D/distal spinal muscular atrophy V [CMT2D/dSMA-V]) is characterized by adolescent or early-adult onset of bilateral weakness and atrophy of thenar and first dorsal interosseus muscles, sparing of the hypothenar eminence until later in the course of illness, and mild to moderate impairment of vibration sense in the hands and feet later in the disease course in a minority of individuals. The phenotype is considered the CMT2D subtype when sensory deficits (reduction of pinprick, temperature, touch, and vibration perception in a stocking and [less often] glove pattern) are present and dSMA-V when sensory deficits are absent. The lower limbs are involved in about half of affected individuals. The earliest elicited manifestations in many individuals are transient cramping and pain in the hands on exposure to cold and cramping in calf muscles on exertion.
Charcot-Marie-Tooth disease, axonal, type 2b
MedGen UID:
371512
Concept ID:
C1833219
Disease or Syndrome
Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings.
Distal hereditary motor neuronopathy type 5
MedGen UID:
318838
Concept ID:
C1833308
Disease or Syndrome
GARS-associated axonal neuropathy (Charcot-Marie-Tooth neuropathy type 2D/distal spinal muscular atrophy V [CMT2D/dSMA-V]) is characterized by adolescent or early-adult onset of bilateral weakness and atrophy of thenar and first dorsal interosseus muscles, sparing of the hypothenar eminence until later in the course of illness, and mild to moderate impairment of vibration sense in the hands and feet later in the disease course in a minority of individuals. The phenotype is considered the CMT2D subtype when sensory deficits (reduction of pinprick, temperature, touch, and vibration perception in a stocking and [less often] glove pattern) are present and dSMA-V when sensory deficits are absent. The lower limbs are involved in about half of affected individuals. The earliest elicited manifestations in many individuals are transient cramping and pain in the hands on exposure to cold and cramping in calf muscles on exertion.
Charcot-Marie-Tooth disease, type 2A2A
MedGen UID:
373098
Concept ID:
C1836485
Disease or Syndrome
Charcot-Marie-Tooth hereditary neuropathy type 2A (CMT2A) is a classic axonal peripheral sensorimotor neuropathy characterized by earlier and more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Most affected individuals develop symptoms in the first or second decade. It has recently been suggested that CMT2A represents more than 90% of the severe dominant CMT2 cases. However, milder late-onset cases and unusual presentations have also been described.
Autosomal dominant Charcot-Marie-Tooth disease type 2G
MedGen UID:
332949
Concept ID:
C1837805
Disease or Syndrome
Autosomal dominant Charcot-Marie-Tooth disease type 2G (CMT2G) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy. CMT2G [has only been described in 1 familly and] onset is associated to development of foot deformity and walking difficulties between the 1st and the 8th decades, with a median range in the 2nd one. Weakness and sensory loss involve primarily the legs and ankles tendon reflexes are reduced. CMT2G has a slowly progressive course.
Diaphanospondylodysostosis
MedGen UID:
374993
Concept ID:
C1842691
Disease or Syndrome
Diaphanospondylodysostosis is a rare, recessively inherited, perinatal lethal skeletal disorder. The primary skeletal characteristics include small chest, abnormal vertebral segmentation, and posterior rib gaps containing incompletely differentiated mesenchymal tissue. Consistent craniofacial features include ocular hypertelorism, epicanthal folds, depressed nasal bridge with short nose, and low-set ears. The most commonly described extraskeletal finding is nephroblastomatosis with cystic kidneys, but other visceral findings have been described in some cases (summary by Funari et al., 2010).
Charcot-Marie-Tooth disease type 2E
MedGen UID:
375127
Concept ID:
C1843225
Disease or Syndrome
Charcot-Marie-Tooth peroneal muscular atrophy and Friedreich ataxia, combined
MedGen UID:
337104
Concept ID:
C1844863
Disease or Syndrome
Oculofaciocardiodental syndrome
MedGen UID:
337547
Concept ID:
C1846265
Disease or Syndrome
Lenz microphthalmia syndrome (LMS) is characterized by unilateral or bilateral microphthalmia and/or clinical anophthalmia with malformations of the ears, teeth, fingers, skeleton, and/or genitourinary system. Microphthalmia is often accompanied by microcornea and glaucoma. Coloboma is present in approximately 60% of microphthalmic eyes with severity ranging from isolated iris coloboma to coloboma of the ciliary body, choroid, and optic disk. Ears may be low set, anteverted, posteriorly rotated, simple, cup shaped, or abnormally modeled. Hearing loss has been observed. Dental findings include irregularly shaped, missing, or widely spaced teeth. Duplicated thumbs, syndactyly, clinodactyly, camptodactyly, and microcephaly are common, as are narrow/sloping shoulders, underdeveloped clavicles, kyphoscoliosis, exaggerated lumbar lordosis, long cylindric thorax, and webbed neck. Genitourinary anomalies include hypospadias, cryptorchidism, renal hypoplasia/aplasia, and hydroureter. Approximately 60% of affected males have mild-to-severe intellectual disability or developmental delay.
Spastic ataxia Charlevoix-Saguenay type
MedGen UID:
338620
Concept ID:
C1849140
Disease or Syndrome
ARSACS (autosomal recessive spastic ataxia of Charlevoix-Saguenay) is characterized in individuals born in Quebec Province by early-onset (age 12-18 months) difficulty in walking and gait unsteadiness. In individuals with ARSACS born outside the Province of Quebec, onset is often delayed until later childhood and even adulthood. Ataxia, dysarthria, spasticity, extensor plantar reflexes, distal muscle wasting, a distal sensorimotor neuropathy predominant in the legs, and horizontal gaze-evoked nystagmus constitute the most frequent progressive neurologic signs. Increased demarcation of the retinal nerve fibers located near the vessels close to the optic disc (formerly designated as yellow streaks of hypermyelinated fibers) is very common in individuals with ARSACS who originate from Quebec but may be absent in non-Quebec born individuals. Individuals with ARSACS born in the Province of Quebec become wheelchair bound at the average age of 41 years; cognitive skills are preserved in the long term as individuals remain able to perform daily living tasks late into adulthood. Death commonly occurs in the sixth decade.
Distal spinal muscular atrophy, autosomal recessive 2
MedGen UID:
344189
Concept ID:
C1854023
Disease or Syndrome
Distal spinal muscular atrophy-2 is an autosomal recessive neuromuscular disorder characterized by onset of distal muscle weakness and wasting affecting the lower and upper limbs in the first decade; there is no sensory involvement (summary by Li et al., 2015). For a general phenotypic description and a discussion of genetic heterogeneity of DSMA, see HMN1 (182960).
Friedreich ataxia congenital glaucoma
MedGen UID:
344787
Concept ID:
C1856688
Disease or Syndrome
Charcot-Marie-Tooth disease, type 4B2
MedGen UID:
346869
Concept ID:
C1858278
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.
Charcot-Marie-Tooth disease, type 4A
MedGen UID:
347821
Concept ID:
C1859198
Disease or Syndrome
GDAP1-related hereditary motor and sensory neuropathy (GDAP1-HMSN) is a peripheral neuropathy (also known as a subtype of Charcot-Marie-Tooth disease) that typically affects the lower extremities earlier and more severely than the upper extremities. As the neuropathy progresses, the distal upper extremities also become severely affected. Proximal muscles can also become weak. Age at onset ranges from infancy to early childhood. In most cases, disease progression causes disabilities within the first or second decade of life. At the end of the second decade, most individuals are wheelchair bound. Disease progression varies considerably even within the same family. The neuropathy can be either of the demyelinating type with reduced nerve conduction velocities or the axonal type with normal nerve conduction velocities. Vocal cord paresis is common. Intelligence is normal. Life expectancy is usually normal, but on occasion may be reduced because of secondary complications.
Camptodactyly, fibrous tissue hyperplasia, and skeletal dysplasia
MedGen UID:
395240
Concept ID:
C1859357
Disease or Syndrome
Arthrogryposis, distal, with hypopituitarism, mental retardation, and facial anomalies
MedGen UID:
347941
Concept ID:
C1859724
Disease or Syndrome
Charcot-Marie-Tooth disease and deafness
MedGen UID:
348419
Concept ID:
C1861669
Disease or Syndrome
Charcot-Marie-Tooth neuropathy type 1 (CMT1) is a demyelinating peripheral neuropathy characterized by distal muscle weakness and atrophy, sensory loss, and slow nerve conduction velocity. It is usually slowly progressive and often associated with pes cavus foot deformity and bilateral foot drop. Affected individuals usually become symptomatic between age five and 25 years. Fewer than 5% of individuals become wheelchair dependent. Life span is not shortened.
Charcot-Marie-Tooth disease, type 2A1
MedGen UID:
350076
Concept ID:
C1861678
Disease or Syndrome
Charcot-Marie-Tooth hereditary neuropathy type 2A (CMT2A) is a classic axonal peripheral sensorimotor neuropathy characterized by earlier and more severe involvement of the lower extremities than the upper extremities, distal upper-extremity involvement as the neuropathy progresses, more prominent motor deficits than sensory deficits, and normal (>42 m/s) or only slightly decreased nerve conduction velocities (NCVs). Postural tremor is common. Most affected individuals develop symptoms in the first or second decade. It has recently been suggested that CMT2A represents more than 90% of the severe dominant CMT2 cases. However, milder late-onset cases and unusual presentations have also been described.
Giant axonal neuropathy 2, autosomal dominant
MedGen UID:
400593
Concept ID:
C1864695
Disease or Syndrome
Giant axonal neuropathy-2 is an autosomal dominant peripheral axonal neuropathy characterized by onset of distal sensory impairment and lower extremity muscle weakness and atrophy after the second decade. Foot deformities may be present in childhood. More severely affected individuals may develop cardiomyopathy. Sural nerve biopsy shows giant axonal swelling with neurofilament accumulation (summary by Klein et al., 2014).
Friedreich ataxia 2
MedGen UID:
356134
Concept ID:
C1865981
Disease or Syndrome
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia with associated limb muscle weakness, absent lower limb reflexes, extensor plantar responses, dysarthria, and decreased vibratory sense and proprioception. Onset is usually in the first or second decade, before the end of puberty (summary by Delatycki et al., 2000). For a general phenotypic description of Friedreich ataxia (FRDA), see FRDA1 (229300), which is caused by mutation in the FXN gene (606829) on chromosome 9q13.
Neuronopathy, distal hereditary motor, type I
MedGen UID:
356618
Concept ID:
C1866784
Disease or Syndrome
Distal hereditary motor neuronopathy (dHMN or HMN) is a heterogeneous group of neuromuscular disorders caused by anterior horn cell degeneration and characterized by progressive distal motor weakness and muscular atrophy of the peripheral nervous system without sensory impairment. Distal HMN is also referred to as spinal Charcot-Marie-Tooth disease (spinal CMT). Distal HMN is often referred to as a 'neuronopathy' instead of a 'neuropathy' based on the hypothesis that the primary pathologic process resides in the neuron cell body and not in the axons (Irobi et al., 2006). Genetic Heterogeneity of Autosomal Dominant Distal Hereditary Motor Neuronopathy Harding (1993) proposed a classification of distal HMN into 7 phenotypic subtypes according to age at onset, mode of inheritance, and presence of additional features. Those that show autosomal dominant inheritance include distal HMN type I, and II (HMN2A, 158590 and HMN2B, 608634), characterized by juvenile and adult onset, respectively; HMN type V (HMN5A, 600794 and HMN5B, 614751), characterized by upper limb involvement; HMN VII (HMN7A, 158580 and HMN7B, 607641), with vocal cord paralysis; HMN8 (600175); and HMN9 (617721). HMN2A is caused by mutation in the HSPB8 gene (608014), HMN2B by mutation in the HSPB1 gene (602195), HMN2C (613376) by mutation in the HSPB3 gene (604624), and HMN2D (615575) by mutation in the FBXO38 gene (608533). HMN5A is caused by mutation in the GARS gene (600287) and HMN5B is caused by mutation in the REEP1 gene (609139). HMN7A is caused by mutation in the SLC5A7 gene (608761). HMN7B is caused by mutation in the DCTN1 gene (601143). HMN8 is caused by mutation in the TRPV4 gene (605427). See also autosomal dominant ALS4 (602433) and congenital autosomal dominant distal SMA (600175). Genetic Heterogeneity of Autosomal Recessive Distal Hereditary Motor Neuronopathy (Distal Spinal Muscular Atrophy) Harding (1993) classified autosomal recessive distal hereditary motor neuronopathy as dHMN IV (HMN4) and dHMN III (HMN3) (see DSMA3; 607088). HMN has also been referred to as distal spinal muscular atrophy (DSMA). 'Distal' SMA is distinguished from 'proximal' autosomal recessive spinal muscular atrophy (SMA, 253300) by the primary muscles involved. DSMA here refers to the autosomal recessive forms of HMN. See DSMA1 (SMARD1; 604320), caused by mutation in the IGHMBP2 gene (600502); DSMA2 (605726), caused by mutation in the SIGMAR1 gene (601978) on chromosome 9p13; DSMA3 (607088), encompassing HMN types III and IV, which maps to chromosome 11q13; DSMA4 (611067), caused by mutation in the PLEKHG5 gene (611101); and DSMA5 (614881), caused by mutation in the DNAJB2 gene (604139). See also X-linked SMAX3 (300489).
Charcot-Marie-Tooth disease type 2C
MedGen UID:
389170
Concept ID:
C2079540
Disease or Syndrome
Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings.
Charcot-Marie-Tooth disease, type 2N
MedGen UID:
413754
Concept ID:
C2750090
Disease or Syndrome
Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings.
Charcot-Marie-Tooth disease type 2P
MedGen UID:
482427
Concept ID:
C3280797
Disease or Syndrome
Charcot-Marie-Tooth hereditary neuropathy type 2 (CMT2) is an axonal (non-demyelinating) peripheral neuropathy characterized by distal muscle weakness and atrophy, mild sensory loss, and normal or near-normal nerve conduction velocities. CMT2 is clinically similar to CMT1, although typically less severe. Peripheral nerves are not enlarged or hypertrophic. The subtypes of CMT2 are similar clinically and distinguished only by molecular genetic findings.
Charcot-Marie-Tooth disease, dominant intermediate E
MedGen UID:
482475
Concept ID:
C3280845
Disease or Syndrome
Autosomal dominant intermediate Charcot-Marie-Tooth disease E with focal segmental glomerulonephritis is characterized by the neurologic features of CMT, including distal muscle weakness and atrophy and distal sensory loss, and the features of FSGS, including proteinuria, progression to end-stage renal disease, and a characteristic histologic pattern on renal biopsy (summary by Boyer et al., 2011). Isolated focal segmental glomerulosclerosis-5 (FSGS5; 613237) is also caused by heterozygous mutation in the INF2 gene. For a discussion of genetic heterogeneity of CMTDI, see 606482.
Spinal muscular atrophy, jokela type
MedGen UID:
767312
Concept ID:
C3554398
Disease or Syndrome
CHCHD10-related disorders are characterized by a spectrum of adult-onset neurologic findings that can include: Mitochondrial myopathy (may also be early-onset): weakness, amyotrophy, exercise intolerance. Amyotrophic lateral sclerosis (ALS): progressive degeneration of upper motor neurons (UMNs) and lower motor neurons (LMNs). Frontotemporal dementia (FTD): slowly progressive behavioral changes, language disturbances, cognitive decline, extrapyramidal signs. Late-onset spinal motor neuronopathy (SMAJ): weakness, cramps and/or fasciculations; areflexia. Cerebellar ataxia: gait ataxia, kinetic ataxia (progressive loss of coordination of lower- and upper-limb movements), dysarthria/dysphagia, nystagmus, cerebellar oculomotor disorder. Because of the recent discovery CHCHD10-related disorders and the limited number of affected individuals reported to date, the natural history of these disorders (except for SMAJ caused by the p.Gly66Val pathogenic variant) is largely unknown.
Charcot-Marie-Tooth disease, dominant intermediate F
MedGen UID:
767568
Concept ID:
C3554654
Disease or Syndrome
CMTDIF is an autosomal dominant neurologic disorder characterized by onset around adolescence of slowly progressive distal muscle atrophy and weakness affecting the upper and lower limbs and resulting in steppage gait. There is distal sensory impairment with decreased reflexes. Nerve conduction velocities are variable, ranging from the demyelinating to the axonal range (summary by Soong et al., 2013). For a discussion of genetic heterogeneity of CMTDI, see 606482.
Charcot-Marie-Tooth disease, recessive intermediate c
MedGen UID:
815639
Concept ID:
C3809309
Disease or Syndrome
CMTRIC is an autosomal recessive 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. The age at onset and the severity of the disease are variable (summary by Azzedine et al., 2013). For a discussion of genetic heterogeneity of autosomal recessive intermediate CMT, see CMTRIA (608340).
Myasthenic syndrome, congenital, 7, presynaptic
MedGen UID:
863475
Concept ID:
C4015038
Disease or Syndrome
Congenital myasthenic syndromes (designated as CMS throughout this entry) are characterized by fatigable weakness of skeletal muscle (e.g., ocular, bulbar, limb muscles) with onset at or shortly after birth or in early childhood; rarely, symptoms may not manifest until later in childhood. Cardiac and smooth muscle are usually not involved. Severity and course of disease are highly variable, ranging from minor symptoms to progressive disabling weakness. In some subtypes of CMS, myasthenic symptoms may be mild, but sudden severe exacerbations of weakness or even sudden episodes of respiratory insufficiency may be precipitated by fever, infections, or excitement. Major findings of the neonatal-onset subtype include: respiratory insufficiency with sudden apnea and cyanosis; feeding difficulties; poor suck and cry; choking spells; eyelid ptosis; and facial, bulbar, and generalized weakness. Arthrogryposis multiplex congenita may also be present. Stridor in infancy may be an important clue to CMS. Later childhood-onset subtypes show abnormal muscle fatigability with difficulty in activities such as running or climbing stairs; motor milestones may be delayed; fluctuating eyelid ptosis and fixed or fluctuating extraocular muscle weakness are common presentations.
Charcot-Marie-Tooth disease, axonal, type 2y
MedGen UID:
898987
Concept ID:
C4225244
Disease or Syndrome
Charcot-Marie-Tooth disease type 2Y is an autosomal dominant peripheral neuropathy characterized by distal muscle weakness and atrophy associated with length-dependent sensory loss. Most patients have involvement of both the lower and upper limbs. The age at onset and the severity of the disorder are highly variable (summary by Gonzalez et al., 2014). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).
Charcot-Marie-Tooth disease, axonal, type 2w
MedGen UID:
898344
Concept ID:
C4225265
Disease or Syndrome
Charcot-Marie-Tooth disease type 2W is an autosomal dominant neurologic disorder characterized by a peripheral neuropathy mainly affecting the lower limbs and resulting in gait difficulties and distal sensory impairment, although most patients also have upper limb involvement. The age at onset is highly variable, ranging from childhood to late adulthood (summary by Safka Brozkova et al., 2015). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).

Recent clinical studies

Etiology

Richman SH, Siqueira MB, McCullough KA, Berkowitz MJ
Foot Ankle Int 2017 Feb;38(2):174-180. Epub 2016 Oct 22 doi: 10.1177/1071100716671883. PMID: 27756869
Boffeli TJ, Thompson JC, Tabatt JA
J Foot Ankle Surg 2016 May-Jun;55(3):480-7. Epub 2016 Feb 12 doi: 10.1053/j.jfas.2016.01.027. PMID: 26878808
Kramer WC, Parman M, Marks RM
Foot Ankle Int 2015 May;36(5):494-502. Epub 2015 Feb 12 doi: 10.1177/1071100714568013. PMID: 25677363
Catena F, Doty JF, Jastifer J, Coughlin MJ, Stevens F
Foot Ankle Int 2014 Apr;35(4):319-25. Epub 2014 Jan 17 doi: 10.1177/1071100713519780. PMID: 24443491
Scott RT, Hyer CF, Berlet GC
Foot Ankle Spec 2013 Jun;6(3):214-6. doi: 10.1177/1938640013487891. PMID: 23674131

Diagnosis

López JB, Becerro de Bengoa Vallejo R, Losa Iglesias ME, Jules KT, Doblaré M
J Am Podiatr Med Assoc 2015 Nov;105(6):493-502. doi: 10.7547/14-032.1. PMID: 26667503
Kramer WC, Parman M, Marks RM
Foot Ankle Int 2015 May;36(5):494-502. Epub 2015 Feb 12 doi: 10.1177/1071100714568013. PMID: 25677363
Boffeli TJ, Collier RC
J Foot Ankle Surg 2015 Sep-Oct;54(5):985-93. Epub 2014 Aug 22 doi: 10.1053/j.jfas.2014.06.023. PMID: 25154656
Boffeli TJ, Abben KW, Hyllengren SB
J Foot Ankle Surg 2014 Nov-Dec;53(6):720-6. Epub 2014 Jul 22 doi: 10.1053/j.jfas.2014.04.020. PMID: 25060606
Malzberg AB, Vulcano E, O'Malley MJ, Deland JT, Ellis SJ
Foot Ankle Int 2013 Apr;34(4):530-3. Epub 2013 Jan 14 doi: 10.1177/1071100712467781. PMID: 23559613

Therapy

Boffeli TJ, Thompson JC, Tabatt JA
J Foot Ankle Surg 2016 May-Jun;55(3):480-7. Epub 2016 Feb 12 doi: 10.1053/j.jfas.2016.01.027. PMID: 26878808
Kramer WC, Parman M, Marks RM
Foot Ankle Int 2015 May;36(5):494-502. Epub 2015 Feb 12 doi: 10.1177/1071100714568013. PMID: 25677363
Arrington W, Britt M
J Am Podiatr Med Assoc 2015 Jan-Feb;105(1):96-100. doi: 10.7547/8750-7315-105.1.96. PMID: 25675233
Galli MM, Brigido SA, Protzman NM
J Foot Ankle Surg 2014 Jul-Aug;53(4):405-10. Epub 2013 Jul 18 doi: 10.1053/j.jfas.2013.06.014. PMID: 23871175
Fishco WD, Roth BJ
J Foot Ankle Surg 2010 Mar-Apr;49(2):179-81. Epub 2009 Dec 3 doi: 10.1053/j.jfas.2009.08.002. PMID: 19962327

Prognosis

Richman SH, Siqueira MB, McCullough KA, Berkowitz MJ
Foot Ankle Int 2017 Feb;38(2):174-180. Epub 2016 Oct 22 doi: 10.1177/1071100716671883. PMID: 27756869
Gribbin CK, Ellis SJ, Nguyen J, Williamson E, Cody EA
Foot Ankle Int 2017 Jan;38(1):14-19. Epub 2016 Sep 30 doi: 10.1177/1071100716666562. PMID: 27621266
Boffeli TJ, Thompson JC, Tabatt JA
J Foot Ankle Surg 2016 May-Jun;55(3):480-7. Epub 2016 Feb 12 doi: 10.1053/j.jfas.2016.01.027. PMID: 26878808
Basile A, Albo F, Via AG
J Foot Ankle Surg 2015 Sep-Oct;54(5):910-6. Epub 2015 May 28 doi: 10.1053/j.jfas.2015.04.004. PMID: 26028601
Coughlin MJ, Dorris J, Polk E
Foot Ankle Int 2000 Feb;21(2):94-104. PMID: 10694020

Clinical prediction guides

Boffeli TJ, Thompson JC, Tabatt JA
J Foot Ankle Surg 2016 May-Jun;55(3):480-7. Epub 2016 Feb 12 doi: 10.1053/j.jfas.2016.01.027. PMID: 26878808
Guelfi M, Pantalone A, Cambiaso Daniel J, Vanni D, Guelfi MG, Salini V
J Orthop Traumatol 2015 Dec;16(4):269-73. Epub 2015 Jun 27 doi: 10.1007/s10195-015-0360-0. PMID: 26115745Free PMC Article
Basile A, Albo F, Via AG
J Foot Ankle Surg 2015 Sep-Oct;54(5):910-6. Epub 2015 May 28 doi: 10.1053/j.jfas.2015.04.004. PMID: 26028601
Sung W, Weil L Jr, Weil LS Sr
Foot Ankle Spec 2014 Jun;7(3):185-92. Epub 2014 Apr 21 doi: 10.1177/1938640014529992. PMID: 24756117
Catena F, Doty JF, Jastifer J, Coughlin MJ, Stevens F
Foot Ankle Int 2014 Apr;35(4):319-25. Epub 2014 Jan 17 doi: 10.1177/1071100713519780. PMID: 24443491

Recent systematic reviews

LiMarzi GM, Scherer KF, Richardson ML, Warden DR 4th, Wasyliw CW, Porrino JA, Pettis CR, Lewis G, Mason CC, Bancroft LW
Radiographics 2016 Oct;36(6):1828-1848. doi: 10.1148/rg.2016160016. PMID: 27726748
Guelfi M, Pantalone A, Cambiaso Daniel J, Vanni D, Guelfi MG, Salini V
J Orthop Traumatol 2015 Dec;16(4):269-73. Epub 2015 Jun 27 doi: 10.1007/s10195-015-0360-0. PMID: 26115745Free PMC Article

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