Hereditary continuous muscle fiber activity
General Information (adopted from Orphanet):
Synonyms, Signs: |
CONTINUOUS MUSCLE FIBER ACTIVITY, HEREDITARY, INCLUDED MYOKYMIA WITH PERIODIC ATAXIA MYOKYMIA 1, INCLUDED ATAXIA, EPISODIC, WITH MYOKYMIA MYOKYMIA 1 WITH OR WITHOUT HYPOMAGNESEMIA, INCLUDED PAROXYSMAL ATAXIA WITH NEUROMYOTONIA, HEREDITARY EPISODIC ATAXIA WITH MYOKYMIA ISAACS-MERTENS SYNDROME, INCLUDED EA1 AEM EAM AEMK Isaacs-Mertens syndrome |
Number of Symptoms | 28 |
OrphanetNr: | 972 |
OMIM Id: |
160120
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ICD-10: |
G71.1 |
UMLs: |
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MeSH: |
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MedDRA: |
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Snomed: |
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Prevalence, inheritance and age of onset:
Prevalence: | No data available. |
Inheritance: |
Autosomal dominant inheritance [Omim] |
Age of onset: |
Juvenile onset [Omim] |
Disease classification (adopted from Orphanet):
Parent Diseases: |
Non-dystrophic myopathy
-Rare genetic disease -Rare neurologic disease |
Symptom Information:
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(HPO:0002321) | Vertigo | 58 / 7739 | ||||
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(HPO:0100022) | Abnormality of movement | Very frequent [Orphanet] | 129 / 7739 | |||
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(HPO:0001347) | Hyperreflexia | 363 / 7739 | ||||
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(HPO:0001276) | Hypertonia | Very frequent [Orphanet] | 317 / 7739 | |||
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(HPO:0001337) | Tremor | 200 / 7739 | ||||
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(HPO:0002066) | Gait ataxia | Frequent [Orphanet] | 327 / 7739 | |||
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(HPO:0003487) | Babinski sign | 179 / 7739 | ||||
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(HPO:0002167) | Neurological speech impairment | Frequent [Orphanet] | 308 / 7739 | |||
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(HPO:0001250) | Seizures | Occasional [Orphanet] | 1245 / 7739 | |||
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(HPO:0001260) | Dysarthria | 329 / 7739 | ||||
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(HPO:0002315) | Headache | 175 / 7739 | ||||
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(HPO:0002131) | Episodic ataxia | 16 / 7739 | ||||
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(HPO:0001350) | Slurred speech | 16 / 7739 | ||||
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(HPO:0002064) | Spastic gait | 46 / 7739 | ||||
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(HPO:0000775) | Abnormality of the diaphragm | Occasional [Orphanet] | 62 / 7739 | |||
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(HPO:0003457) | EMG abnormality | Very frequent [Orphanet] | 78 / 7739 | |||
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(OMIM) | Jerking movements of face and limbs | 2 / 7739 | ||||
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(OMIM) | Incoordination of the hands | 2 / 7739 | ||||
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(OMIM) | Myokymia, interictal | 2 / 7739 | ||||
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(HPO:0030089) | Abnormal muscle fiber protein expression | Very frequent [Orphanet] | 64 / 7739 | |||
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(OMIM) | Episodic vertigo | 4 / 7739 | ||||
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(OMIM) | Leg stiffness | 2 / 7739 | ||||
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(OMIM) | [DEL]Increased serum creatine kinase during episodes | 3 / 7739 | ||||
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(OMIM) | Calf muscle enlargement | 2 / 7739 | ||||
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(OMIM) | Muscle biopsy shows enlargement of type I muscle fibers, consistent with denervation | 2 / 7739 | ||||
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(OMIM) | Hand posture resembling carpopedal spasm, episodic | 2 / 7739 | ||||
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(OMIM) | Blurred vision, episodic | 3 / 7739 | ||||
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(OMIM) | EMG shows polyphasic continuous motor unit discharges | 2 / 7739 |
Associated genes:
ClinVar (via SNiPA)
Gene symbol | Variation | Clinical significance | Reference |
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Additional Information:
Description: (OMIM) |
Episodic ataxia is a neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia (Jen et al., 2007). - Genetic Heterogeneity of Episodic Ataxia Episodic ataxia is a genetically heterogeneous ... |
Clinical Description OMIM |
Van Dyke et al. (1975) described a kindred in which 11 persons in 3 consecutive generations had continuous muscle movement (myokymia) and periodic ataxia. Only 2 of the 11 affected were male and no male-to-male transmission was noted. ... |
Molecular genetics OMIM |
Browne et al. (1994) demonstrated mutations in the KCNA1 gene in 4 families with AEMK (176260.0001-176260.0004). A different missense point mutation was present in heterozygous state in each. All affected individuals are heterozygous. In 2 families ... |