Format

Send to:

Choose Destination

Muscle cramps

MedGen UID:
7749
Concept ID:
C0026821
Sign or Symptom
Synonyms: Cramp; Cramp, Muscle; Cramp, Muscular; Cramps; Cramps, Muscle; Cramps, Muscular; Muscle Cramp; Muscle Cramps; Muscular Cramp; Muscular Cramps
SNOMED CT: Muscle cramps (55300003); Cramp (55300003); Cramp in muscle (55300003); Muscle cramp (55300003)
 
HPO: HP:0003394

Definition

A sustained and usually painful contraction of muscle fibers. This may occur as an isolated phenomenon or as a manifestation of an underlying disease process (e.g., UREMIA; HYPOTHYROIDISM; MOTOR NEURON DISEASE; etc.). (From Adams et al., Principles of Neurology, 6th ed, p1398) [from MeSH]

Conditions with this feature

Fabry disease
MedGen UID:
8083
Concept ID:
C0002986
Disease or Syndrome
Fabry disease results from deficient activity of the enzyme alpha-galactosidase A (a-Gal A) and progressive lysosomal deposition of globotriaosylceramide (GL-3) in cells throughout the body. The classic form, occurring in males with less than 1% a-Gal A enzyme activity, usually has its onset in childhood or adolescence with periodic crises of severe pain in the extremities (acroparesthesia), the appearance of vascular cutaneous lesions (angiokeratomas), sweating abnormalities (anhidrosis, hypohidrosis, and rarely hyperhidrosis), characteristic corneal and lenticular opacities, and proteinuria. Gradual deterioration of renal function to end-stage renal disease (ESRD) usually occurs in men in the third to fifth decade. In middle age, most males successfully treated for ESRD develop cardiac and/or cerebrovascular disease, a major cause of morbidity and mortality. Heterozygous females typically have milder symptoms at a later age of onset than males. Rarely, they may be relatively asymptomatic throughout a normal life span or may have symptoms as severe as those observed in males with the classic phenotype. In contrast, males with greater than 1% a-Gal A activity may have: (1) a cardiac variant phenotype that usually presents in the sixth to eighth decade with left ventricular hypertrophy, cardiomyopathy and arrhythmia, and proteinuria, but without ESRD; or (2) a renal variant phenotype, associated with ESRD but without the skin lesions or pain; or (3) cerebrovascular disease presenting as stroke or transient ischemic attack.
Azorean disease
MedGen UID:
9841
Concept ID:
C0024408
Disease or Syndrome
Spinocerebellar ataxia type 3 (SCA3), also known as Machado-Joseph disease (MJD), is characterized by progressive cerebellar ataxia and variable findings including a dystonic-rigid syndrome, a parkinsonian syndrome, or a combined syndrome of dystonia and peripheral neuropathy. Neurologic findings tend to evolve as the disease progresses.
Myxedema
MedGen UID:
6506
Concept ID:
C0027145
Disease or Syndrome
A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips.
Kugelberg-Welander disease
MedGen UID:
101816
Concept ID:
C0152109
Disease or Syndrome
Spinal muscular atrophy (SMA) is characterized by muscle weakness and atrophy resulting from progressive degeneration and loss of the anterior horn cells in the spinal cord (i.e., lower motor neurons) and the brain stem nuclei. The onset of weakness ranges from before birth to adolescence or young adulthood. The weakness is symmetric, proximal > distal, and progressive. Before the genetic basis of SMA was understood, it was classified into clinical subtypes; however, it is now apparent that the phenotype of SMN1-associated SMA spans a continuum without clear delineation of subtypes. Poor weight gain with growth failure, restrictive lung disease, scoliosis, joint contractures, and sleep difficulties are common complications.
Familial hyperkalemic periodic paralysis
MedGen UID:
68665
Concept ID:
C0238357
Disease or Syndrome
Hyperkalemic periodic paralysis (hyperPP) is characterized by attacks of flaccid limb weakness (which may also include weakness of the muscles of the eyes, throat, and trunk), hyperkalemia (serum potassium concentration >5 mmol/L) or an increase of serum potassium concentration of at least 1.5 mmol/L during an attack of weakness and/or provoking/worsening of an attack by oral potassium intake, normal serum potassium between attacks, and onset before age 20 years. Although the absence of paramyotonia (muscle stiffness aggravated by cold and exercise) was originally postulated as a means of distinguishing hyperPP from paramyotonia congenita (PMC), approximately 45% of individuals with hyperPP have paramyotonia. In approximately half of affected individuals, attacks of flaccid muscle weakness begin in the first decade of life, with 25% reporting their first attack at age ten years or older. Initially infrequent, the attacks then increase in frequency and severity over time until approximately age 50 years, after which the frequency of attacks declines considerably. Potassium-rich food or rest after exercise may precipitate an attack. A cold environment and emotional stress provoke or worsen the attacks. A spontaneous attack commonly starts in the morning before breakfast, lasts for 15 minutes to one hour, and then disappears. Cardiac arrhythmia or respiratory insufficiency usually does not occur during attacks. Between attacks, approximately half of individuals with hyperPP have mild myotonia (muscle stiffness) that does not impede voluntary movements. More than 80% of individuals with hyperPP older than 40 years report permanent muscle weakness and about one third develop a chronic progressive myopathy.
Elevated serum creatine phosphokinase
MedGen UID:
69128
Concept ID:
C0241005
Finding
An elevation of the level of the enzyme creatine kinase (also known as creatine phosphokinase, CPK; EC 2.7.3.2) in the blood. CPK levels can be elevated in a number of clinical disorders such as myocardial infarction, rhabdomyolysis, and muscular dystrophy.
Isaac syndrome
MedGen UID:
116151
Concept ID:
C0242287
Disease or Syndrome
A rare neuromuscular disorder with onset usually in late childhood or early adulthood, characterized by intermittent or continuous widespread involuntary muscle contractions; FASCICULATION; hyporeflexia; MUSCLE CRAMP; MUSCLE WEAKNESS; HYPERHIDROSIS; TACHYCARDIA; and MYOKYMIA. Involvement of pharyngeal or laryngeal muscles may interfere with speech and breathing. The continuous motor activity persists during sleep and general anesthesia (distinguishing this condition from STIFF-PERSON SYNDROME). Familial and acquired (primarily autoimmune) forms have been reported. (From Ann NY Acad Sci 1998 May 13;841:482-496; Adams et al., Principles of Neurology, 6th ed, p1491)
Familial hypokalemic alkalosis, Gullner type
MedGen UID:
78677
Concept ID:
C0268444
Disease or Syndrome
Familial hypokalemia-hypomagnesemia
MedGen UID:
75681
Concept ID:
C0268450
Disease or Syndrome
Gitelman syndrome is an autosomal recessive renal tubular salt-wasting disorder characterized by hypokalemic metabolic alkalosis with hypomagnesemia and hypocalciuria. It is the most common renal tubular disorder among Caucasians (prevalence of 1 in 40,000). Most patients have onset of symptoms as adults, but some can present in childhood. Clinical features include transient periods of muscle weakness and tetany, abdominal pains, and chondrocalcinosis (summary by Glaudemans et al., 2012). Gitelman syndrome is sometimes referred to as a mild variant of classic Bartter syndrome (607364). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.
Hypocalcemia, autosomal dominant 1
MedGen UID:
87438
Concept ID:
C0342345
Disease or Syndrome
Autosomal dominant hypocalcemia-1 is associated with low or normal serum parathyroid hormone concentrations (PTH). Approximately 50% of patients have mild or asymptomatic hypocalcemia; about 50% have paresthesias, carpopedal spasm, and seizures; about 10% have hypercalciuria with nephrocalcinosis or kidney stones; and more than 35% have ectopic and basal ganglia calcifications (summary by Nesbit et al., 2013). Thakker (2001) noted that patients with gain-of-function mutations in the CASR gene, resulting in generally asymptomatic hypocalcemia with hypercalciuria, have low-normal serum PTH concentrations and have often been diagnosed with hypoparathyroidism because of the insensitivity of earlier PTH assays. Because treatment with vitamin D to correct the hypocalcemia in these patients causes hypercalciuria, nephrocalcinosis, and renal impairment, these patients need to be distinguished from those with other forms of hypoparathyroidism (see 146200). Thakker (2001) suggested the designation 'autosomal dominant hypocalcemic hypercalciuria' for this CASR-related disorder. Genetic Heterogeneity of Autosomal Dominant Hypocalcemia Autosomal dominant hypocalcemia-2 (HYPOC2; 615361) is caused by mutation in the GNA11 gene (139313) on chromosome 19p13.
Myopathy with tubular aggregates
MedGen UID:
98050
Concept ID:
C0410207
Disease or Syndrome
Amyotrophic lateral sclerosis-parkinsonism/dementia complex 1
MedGen UID:
107775
Concept ID:
C0543859
Disease or Syndrome
Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodegenerative disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and parkinsonism-dementia are chronic, progressive, and uniformly fatal disorders in this population. Both diseases are known to occur in the same kindred, the same sibship, and even the same individual.
Limb-girdle muscular dystrophy, type 1C
MedGen UID:
371358
Concept ID:
C1832567
Disease or Syndrome
The caveolinopathies, a group of muscle diseases, can be classified into five phenotypes, which can be seen in different members of the same family: Limb-girdle muscular dystrophy 1C (LGMD1C), characterized by onset usually in the first decade, mild-to-moderate proximal muscle weakness, calf hypertrophy, positive Gower sign, and variable muscle cramps after exercise. Isolated hyperCKemia (i.e., elevated serum concentration of creatine kinase (CK) in the absence of signs of muscle disease) (HCK). Rippling muscle disease (RMD), characterized by signs of increased muscle irritability, such as percussion-induced rapid contraction (PIRC), percussion-induced muscle mounding (PIMM), and/or electrically silent muscle contractions (rippling muscle). Distal myopathy (DM), observed in one individual only Hypertrophic cardiomyopathy (HCM), without skeletal muscle manifestations.
Brody myopathy
MedGen UID:
371441
Concept ID:
C1832918
Disease or Syndrome
Brody myopathy, a disorder of fast-twitch skeletal muscle function, is characterized by exercise-induced impairment of skeletal muscle relaxation, stiffening, and cramps, predominantly in the arms, legs, and eyelids (summary by Odermatt et al., 2000).
Carnitine palmitoyltransferase II deficiency, myopathic, stress-induced
MedGen UID:
371584
Concept ID:
C1833508
Disease or Syndrome
Carnitine palmitoyltransferase II (CPT II) deficiency is a disorder of long-chain fatty-acid oxidation. The three clinical presentations are lethal neonatal form, severe infantile hepatocardiomuscular form, and myopathic form (which is usually mild and can manifest from infancy to adulthood). While the former two are severe multisystemic diseases characterized by liver failure with hypoketotic hypoglycemia, cardiomyopathy, seizures, and early death, the latter is characterized by exercise-induced muscle pain and weakness, sometimes associated with myoglobinuria. The myopathic form of CPT II deficiency is the most common disorder of lipid metabolism affecting skeletal muscle and the most frequent cause of hereditary myoglobinuria. Males are more likely to be affected than females.
Myotonic myopathy with cylindrical spirals
MedGen UID:
371817
Concept ID:
C1834418
Disease or Syndrome
Muscle cramps, familial
MedGen UID:
371885
Concept ID:
C1834708
Disease or Syndrome
Myasthenic syndrome, congenital, associated with acetylcholine receptor deficiency
MedGen UID:
373251
Concept ID:
C1837091
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.
Amyotrophic lateral sclerosis type 8
MedGen UID:
325237
Concept ID:
C1837728
Disease or Syndrome
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both upper motor neurons (UMN) and lower motor neurons (LMN). UMN signs include hyperreflexia, extensor plantar response, increased muscle tone, and weakness in a topographic representation. LMN signs include weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations. Initial presentation varies. Affected individuals typically present with either asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). Other findings may include muscle fasciculations, muscle cramps, and labile affect, but not necessarily mood. Regardless of initial symptoms, atrophy and weakness eventually affect other muscles. The mean age of onset is 56 years in individuals with no known family history and 46 years in individuals with more than one affected family member (familial ALS or FALS). Average disease duration is about three years, but it can vary significantly. Death usually results from compromise of the respiratory muscles.
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.
Limb-girdle muscular dystrophy-dystroglycanopathy, type C5
MedGen UID:
339580
Concept ID:
C1846672
Disease or Syndrome
MDGDC5 is an autosomal recessive muscular dystrophy characterized by variable age at onset, normal cognition, and no structural brain changes (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006). For a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type C, see MDDGC1 (609308).
Congenital muscular dystrophy-dystroglycanopathy (with or without mental retardation) type B5
MedGen UID:
335764
Concept ID:
C1847759
Disease or Syndrome
MDDGB5 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Brockington et al., 2001). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as 'dystroglycanopathies' (Mercuri et al., 2006). For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (613155).
Charcot-Marie-Tooth disease type 2F
MedGen UID:
335784
Concept ID:
C1847823
Disease or Syndrome
Charcot-Marie-Tooth disease encompasses a group of disorders called hereditary sensory and motor neuropathies that damage 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 that worsens over time can result in alteration or 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 and age of onset even among members of the same family. Some people never realize they have the disorder because their symptoms are so mild, but most have a moderate amount of physical disability. A small percentage of people experience severe weakness or other problems which, in very 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 result from muscle atrophy 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 (steppage gait) and increase the risk of ankle injuries and tripping. As the disease worsens, 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 Charcot-Marie-Tooth disease typically experience a decreased sensitivity to touch, heat, and cold in the feet and lower legs, but occasionally feel aching or burning sensations. In rare cases, affected individuals have loss of vision or gradual hearing loss that sometimes leads to deafness.There are several types of Charcot-Marie-Tooth disease, which are differentiated by their effects on nerve cells and patterns of inheritance. Type 1 (CMT1) is characterized by abnormalities in myelin, the fatty substance that covers nerve cells, protecting them and helping to transmit nerve impulses. These abnormalities slow the transmission of nerve impulses and can affect the health of the nerve fiber. Type 2 (CMT2) is characterized by abnormalities in the fiber, or axon, that extends from a nerve cell body to muscles or to sense organs. These abnormalities reduce the strength of the nerve impulse. In forms of Charcot-Marie-Tooth disease classified as intermediate type, the nerve impulses are both slowed and reduced in strength, probably due to abnormalities in both myelin and axons. Type 4 (CMT4) is distinguished from the other types by its pattern of inheritance; it can affect either the axons or the myelin. Type X Charcot-Marie-Tooth disease (CMTX) is caused by mutations in genes 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) indicate different genetic causes.Sometimes other, historical names are used to refer to particular forms of Charcot-Marie-Tooth disease. For example, Roussy-Levy syndrome is a form of CMT11 with 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 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.
Charcot-Marie-Tooth disease dominant intermediate 2
MedGen UID:
376235
Concept ID:
C1847896
Disease or Syndrome
Charcot-Marie-Tooth disease is a clinically and genetically heterogeneous disorder of the peripheral nervous system, characterized by progressive weakness and atrophy, initially of the peroneal muscles and later of the distal muscles of the arms. CMT neuropathy is subdivided into CMT1 (see 118200) and CMT2 (see 118210) types on the basis of electrophysiologic and neuropathologic criteria. CMT1 is a demyelinating neuropathy, whereas CMT2 is an axonal neuropathy. Most patients with CMT are classified as having CMT1 or CMT2 by use of a cut-off value of 38 m/s for the motor median nerve conduction velocity (NCV). However, in some families with CMT, patients have motor median NCVs ranging from 25 to 45 m/s. Davis et al. (1978) proposed that this form be designated 'intermediate' CMT. For a phenotypic description and a discussion of genetic heterogeneity of dominant intermediate CMT neuropathy, see CMTDIB (606482).
Myopathy with lactic acidosis, hereditary
MedGen UID:
342573
Concept ID:
C1850718
Disease or Syndrome
Myopathy with deficiency of ISCU, a mitochondrial myopathy, is classically characterized by lifelong exercise intolerance in which minor exertion causes tachycardia, shortness of breath, fatigue, and pain of active muscles; episodes of more profound exercise intolerance associated with rhabdomyolysis, myoglobinuria, and weakness that may be severe; and typically full recovery of muscle strength between episodes of rhabdomyolysis. Affected individuals usually have near-normal strength; they can have large calves.
Myasthenia, limb-girdle, familial
MedGen UID:
376880
Concept ID:
C1850792
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.
Bartter syndrome, type 2, antenatal
MedGen UID:
343428
Concept ID:
C1855849
Disease or Syndrome
Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.
Acanthosis nigricans with muscle cramps and acral enlargement
MedGen UID:
348051
Concept ID:
C1860215
Disease or Syndrome
Amyotrophic lateral sclerosis type 1
MedGen UID:
400169
Concept ID:
C1862939
Disease or Syndrome
Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease involving both upper motor neurons (UMN) and lower motor neurons (LMN). UMN signs include hyperreflexia, extensor plantar response, increased muscle tone, and weakness in a topographic representation. LMN signs include weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations. Initial presentation varies. Affected individuals typically present with either asymmetric focal weakness of the extremities (stumbling or poor handgrip) or bulbar findings (dysarthria, dysphagia). Other findings may include muscle fasciculations, muscle cramps, and labile affect, but not necessarily mood. Regardless of initial symptoms, atrophy and weakness eventually affect other muscles. The mean age of onset is 56 years in individuals with no known family history and 46 years in individuals with more than one affected family member (familial ALS or FALS). Average disease duration is about three years, but it can vary significantly. Death usually results from compromise of the respiratory muscles.
Bartter syndrome, type 1, antenatal
MedGen UID:
355727
Concept ID:
C1866495
Disease or Syndrome
Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997). Patients with antenatal forms of Bartter syndrome typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome (see BARTS3, 607364) present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012). For a discussion of genetic heterogeneity of Bartter syndrome, see 607364.
Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps
MedGen UID:
382033
Concept ID:
C2673195
Disease or Syndrome
The spectrum of COL4A1-related disorders includes: small-vessel brain disease of varying severity including porencephaly, variably associated with eye defects (retinal arterial tortuosity, Axenfeld-Rieger anomaly, cataract) and systemic findings (kidney involvement, muscle cramps, cerebral aneurysms, Raynaud phenomenon, cardiac arrhythmia, and hemolytic anemia). On imaging studies, small-vessel brain disease is manifest as diffuse periventricular leukoencephalopathy, lacunar infarcts, microhemorrhage, dilated perivascular spaces, and deep intracerebral hemorrhages. Clinically, small-vessel brain disease manifests as infantile hemiparesis, seizures, single or recurrent hemorrhagic stroke, ischemic stroke, and isolated migraine with aura. Porencephaly (fluid-filled cavities in the brain detected by CT or MRI) is typically manifest as infantile hemiparesis, seizures, and intellectual disability; however, on occasion it can be an incidental finding. HANAC (hereditary angiopathy with nephropathy, aneurysms, and muscle cramps) syndrome usually associates asymptomatic small-vessel brain disease, cerebral large vessel involvement (i.e., aneurysms), and systemic findings involving the kidney, muscle, and small vessels of the eye. Two additional phenotypes include isolated retinal artery tortuosity and nonsyndromic autosomal dominant congenital cataract.
Myopathy, centronuclear, 3
MedGen UID:
482333
Concept ID:
C3280703
Disease or Syndrome
Congenital myasthenic syndrome 12
MedGen UID:
765249
Concept ID:
C3552335
Disease or Syndrome
Congenital myasthenic syndrome-12 is an autosomal recessive neuromuscular disorder characterized by onset of proximal muscle weakness in the first decade. EMG classically shows a decremental response to repeated nerve stimulation. Affected individuals show a favorable response to acetylcholinesterase (AChE) inhibitors (summary by Senderek et al., 2011). For a discussion of genetic heterogeneity of CMS, see CMS1A (601462).
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 6
MedGen UID:
767513
Concept ID:
C3554599
Disease or Syndrome
PEOA6 is characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA (mtDNA) deletions on muscle biopsy. Symptoms may appear in childhood or adulthood and show slow progression (summary by Ronchi et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (157640).
Distal Hereditary Motor Neuropathy, Type II
MedGen UID:
777992
Concept ID:
C3711384
Disease or Syndrome
Limb-girdle muscular dystrophy, type 2S
MedGen UID:
815566
Concept ID:
C3809236
Autosomal recessive limb-girdle muscular dystrophy-18 is characterized by childhood-onset of proximal muscle weakness resulting in gait abnormalities and scapular winging. Serum creatine kinase is increased. A subset of patients may show a hyperkinetic movement disorder with chorea, ataxia, or dystonia and global developmental delay (summary by Bogershausen et al., 2013). Additional more variable features include alacrima, achalasia, cataracts, or hepatic steatosis (Liang et al., 2015; Koehler et al., 2017). For discussion of genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy, see LGMDR1 (253600).
Hypocalcemia, autosomal dominant 2
MedGen UID:
815573
Concept ID:
C3809243
Disease or Syndrome
Myopathy, vacuolar, with casq1 aggregates
MedGen UID:
864061
Concept ID:
C4015624
Disease or Syndrome
Vacuolar myopathy with CASQ1 aggregates is an autosomal dominant mild muscle disorder characterized by adult onset of muscle cramping and weakness as well as increased levels of serum creatine kinase (CK). The disorder is not progressive, and some patients may be asymptomatic (summary by Rossi et al., 2014).
Charcot-Marie-Tooth disease, axonal, type 2z
MedGen UID:
907298
Concept ID:
C4225243
Disease or Syndrome
Charcot-Marie-Tooth disease type 2Z (CMT2Z) is an autosomal dominant peripheral neuropathy characterized by onset, usually in the first decade, of distal lower limb muscle weakness and sensory impairment. The disorder is progressive, and affected individuals tend to develop upper limb and proximal muscle involvement in an asymmetric pattern, resulting in severe disability late in adulthood (summary by Sevilla et al., 2016). For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (118210).

Recent clinical studies

Etiology

Elfert AA, Abo Ali L, Soliman S, Zakaria S, Shehab El-Din I, Elkhalawany W, Abd-Elsalam S
Eur J Gastroenterol Hepatol 2016 Nov;28(11):1280-4. doi: 10.1097/MEG.0000000000000714. PMID: 27467714
Beladi Mousavi SS, Zeraati A, Moradi S, Mousavi MB
Saudi J Kidney Dis Transpl 2015 Nov;26(6):1142-8. doi: 10.4103/1319-2442.168588. PMID: 26586051
Johnson NE, Sowden J, Dilek N, Eichinger K, Burns J, Mcdermott MP, Shy ME, Herrmann DN
Muscle Nerve 2015 Apr;51(4):485-8. Epub 2015 Feb 11 doi: 10.1002/mus.24333. PMID: 25042364Free PMC Article
Vidot H, Carey S, Allman-Farinelli M, Shackel N
Aliment Pharmacol Ther 2014 Aug;40(3):221-32. Epub 2014 Jun 18 doi: 10.1111/apt.12827. PMID: 24942957
Kraus PD, Wolff D, Grauer O, Angstwurm K, Jarius S, Wandinger KP, Holler E, Schulte-Mattler W, Kleiter I
PLoS One 2012;7(9):e44922. Epub 2012 Sep 17 doi: 10.1371/journal.pone.0044922. PMID: 23028681Free PMC Article

Diagnosis

Ito A, Yamazaki Y, Sasano H, Matsubara D, Fukushima N, Tamba M, Tabata K, Ashizawa K, Takei A, Koizumi M, Sakuma Y, Sata N, Oshiro H
Pathol Int 2017 Apr;67(4):214-221. Epub 2017 Mar 5 doi: 10.1111/pin.12521. PMID: 28261922
Aldulaimi S
J Fam Pract 2017 Feb;66(2):100-102. PMID: 28222455
Stephens HE, Joyce NC, Oskarsson B
Amyotroph Lateral Scler Frontotemporal Degener 2017 Feb;18(1-2):32-36. Epub 2016 Dec 15 doi: 10.1080/21678421.2016.1245755. PMID: 27978764Free PMC Article
Maxwell SK, Kokokyi S, Breiner A, Ebadi H, Bril V, Katzberg HD
Neuromuscul Disord 2014 Aug;24(8):671-6. Epub 2014 May 9 doi: 10.1016/j.nmd.2014.04.008. PMID: 24878228
Kraus PD, Wolff D, Grauer O, Angstwurm K, Jarius S, Wandinger KP, Holler E, Schulte-Mattler W, Kleiter I
PLoS One 2012;7(9):e44922. Epub 2012 Sep 17 doi: 10.1371/journal.pone.0044922. PMID: 23028681Free PMC Article

Therapy

Imbe A, Tanimoto K, Inaba Y, Sakai S, Shishikura K, Imbe H, Tanimoto Y, Terasaki J, Imagawa A, Hanafusa T
Endocr J 2018 May 28;65(5):521-526. Epub 2018 Mar 6 doi: 10.1507/endocrj.EJ17-0431. PMID: 29515058
Weiker MK, Nielsen B, Waclawik AJ, Staples AC, Hansen KE
WMJ 2017 Dec;116(5):200-204. PMID: 29357208Free PMC Article
Elfert AA, Abo Ali L, Soliman S, Zakaria S, Shehab El-Din I, Elkhalawany W, Abd-Elsalam S
Eur J Gastroenterol Hepatol 2016 Nov;28(11):1280-4. doi: 10.1097/MEG.0000000000000714. PMID: 27467714
Takao Y, Takaoka Y, Sugano A, Sato H, Motoyama Y, Ohta M, Nishimoto T, Mizobuchi S
Kobe J Med Sci 2015 Apr 4;61(5):E132-7. PMID: 27363396
Johnson NE, Sowden J, Dilek N, Eichinger K, Burns J, Mcdermott MP, Shy ME, Herrmann DN
Muscle Nerve 2015 Apr;51(4):485-8. Epub 2015 Feb 11 doi: 10.1002/mus.24333. PMID: 25042364Free PMC Article

Prognosis

Weiker MK, Nielsen B, Waclawik AJ, Staples AC, Hansen KE
WMJ 2017 Dec;116(5):200-204. PMID: 29357208Free PMC Article
Stephens HE, Joyce NC, Oskarsson B
Amyotroph Lateral Scler Frontotemporal Degener 2017 Feb;18(1-2):32-36. Epub 2016 Dec 15 doi: 10.1080/21678421.2016.1245755. PMID: 27978764Free PMC Article
Weiss MD, Macklin EA, Simmons Z, Knox AS, Greenblatt DJ, Atassi N, Graves M, Parziale N, Salameh JS, Quinn C, Brown RH Jr, Distad JB, Trivedi J, Shefner JM, Barohn RJ, Pestronk A, Swenson A, Cudkowicz ME; Mexiletine ALS Study Group.
Neurology 2016 Apr 19;86(16):1474-81. Epub 2016 Feb 24 doi: 10.1212/WNL.0000000000002507. PMID: 26911633Free PMC Article
Kraus PD, Wolff D, Grauer O, Angstwurm K, Jarius S, Wandinger KP, Holler E, Schulte-Mattler W, Kleiter I
PLoS One 2012;7(9):e44922. Epub 2012 Sep 17 doi: 10.1371/journal.pone.0044922. PMID: 23028681Free PMC Article
Chatrath H, Liangpunsakul S, Ghabril M, Otte J, Chalasani N, Vuppalanchi R
Am J Med 2012 Oct;125(10):1019-25. Epub 2012 Jul 24 doi: 10.1016/j.amjmed.2012.03.012. PMID: 22835465Free PMC Article

Clinical prediction guides

Durand PY, Nicco C, Serteyn D, Attaf D, Edeas M
Blood Purif 2018;46(4):301-308. Epub 2018 Jul 26 doi: 10.1159/000490612. PMID: 30048977
Imbe A, Tanimoto K, Inaba Y, Sakai S, Shishikura K, Imbe H, Tanimoto Y, Terasaki J, Imagawa A, Hanafusa T
Endocr J 2018 May 28;65(5):521-526. Epub 2018 Mar 6 doi: 10.1507/endocrj.EJ17-0431. PMID: 29515058
Weiker MK, Nielsen B, Waclawik AJ, Staples AC, Hansen KE
WMJ 2017 Dec;116(5):200-204. PMID: 29357208Free PMC Article
Nakanishi H, Kurosaki M, Tsuchiya K, Nakakuki N, Takada H, Matsuda S, Gondo K, Asano Y, Hattori N, Tamaki N, Suzuki S, Yasui Y, Hosokawa T, Itakura J, Takahashi Y, Izumi N
Clin Gastroenterol Hepatol 2015 Aug;13(8):1540-3. Epub 2014 Dec 9 doi: 10.1016/j.cgh.2014.12.005. PMID: 25496816
Chatrath H, Liangpunsakul S, Ghabril M, Otte J, Chalasani N, Vuppalanchi R
Am J Med 2012 Oct;125(10):1019-25. Epub 2012 Jul 24 doi: 10.1016/j.amjmed.2012.03.012. PMID: 22835465Free PMC Article

Recent systematic reviews

El-Tawil S, Al Musa T, Valli H, Lunn MP, Brassington R, El-Tawil T, Weber M
Cochrane Database Syst Rev 2015 Apr 5;(4):CD005044. doi: 10.1002/14651858.CD005044.pub3. PMID: 25842375
Vidot H, Carey S, Allman-Farinelli M, Shackel N
Aliment Pharmacol Ther 2014 Aug;40(3):221-32. Epub 2014 Jun 18 doi: 10.1111/apt.12827. PMID: 24942957
Garrison SR, Allan GM, Sekhon RK, Musini VM, Khan KM
Cochrane Database Syst Rev 2012 Sep 12;(9):CD009402. doi: 10.1002/14651858.CD009402.pub2. PMID: 22972143
Blyton F, Chuter V, Walter KE, Burns J
Cochrane Database Syst Rev 2012 Jan 18;1:CD008496. doi: 10.1002/14651858.CD008496.pub2. PMID: 22258986
El-Tawil S, Al Musa T, Valli H, Lunn MP, El-Tawil T, Weber M
Cochrane Database Syst Rev 2010 Dec 8;(12):CD005044. doi: 10.1002/14651858.CD005044.pub2. PMID: 21154358

Supplemental Content

Table of contents

    Clinical resources

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center