ORPHA:972
Hereditary continuous muscle fiber activity
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Childhood, Infancy
- Status
- active
Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hereditary continuous muscle fiber activity | |
| fr | Activité continue familiale de la fibre musculaire | |
| de | Muskuläre Daueraktivität, hereditäre | Isaacs-Mertens-Syndrom |
| es | Actividad continua de la fibra muscular hereditaria | |
| it | Attività continua ereditaria delle fibre muscolari | |
| nl | Erfelijke continue spiervezelactiviteit | |
| pt | Atividade contínua das fibras musculares hereditária | Síndrome Isaacs-Mertens |
| pl | Dziedziczna ciągła aktywność włókien mięśniowych | Zespół Isaacsa i Mertens |
| cs | Dědičná kontinuální aktivita svalových vláken | |
| uk | Спадкова безперервна активність мязових волокон | |
| zh | 遗传性持续肌纤维活动 | |
| tr | Kalıtsal sürekli kas lifi aktivitesi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 160120 | NTBT | validated | |
| ICD-10 | G71.1 | NTBT | attributed | validated |
| ICD-11 | 8C7Y | NTBT | index | validated |
| MONDO | 0019943 | E | validated | |
| MeSH | C563545 | E | validated | |
| UMLS | C1834559 | E | validated | |
| GARD | 1512 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:98741Neurological muscular channelopathy due to a genetic potassium channel defect
rare genetic diseases; rare neurological diseases - ORPHA:206656Non-dystrophic myopathy
rare genetic diseases; rare neurological diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| KCNA1 | Disease-causing germline mutation(s) in | Assessed | HGNC:6218 | ENSG00000111262 | 176260 | 12p13.32 | potassium voltage-gated channel subfamily A member 1 | 17136396[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 34 cases | Worldwide | Case(s) | Validated | 6703941[PMID]_17136396[PMID]_1170284[PMID]_9528033[PMID]_889293[PMID]_3504247[PMID]_1647493[PMID]_17136396[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | 6703941[PMID]_17136396[PMID]_1170284[PMID]_9528033[PMID]_889293[PMID]_3504247[PMID]_1647493[PMID]_17136396[PMID]_ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
10 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100022 | Abnormality of movement | |
| HP:0003457 | EMG abnormality | |
| HP:0003236 | Elevated circulating creatine kinase concentration | |
| HP:0002064 | Spastic gait | |
| HP:0003803 | Type 1 muscle fiber predominance | |
| Frequent (79-30%) | ||
| HP:0001251 | Ataxia | |
| HP:0001260 | Dysarthria | |
| HP:0001350 | Slurred speech | |
| Occasional (29-5%) | ||
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0001250 | Seizure | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/972
- This record as JSON: /data/d/972.json