ORPHA:63273
FLNC-related handgrip and calf weakness-distal myopathy
Synonyms: Distal ABD-filaminopathy
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adolescent, Adult
- Status
- active
Distal myopathy with posterior leg and anterior hand involvement, also named distal ABD-filaminopathy, is a neuromuscular disease characterized by a progressive symmetric muscle weakness of anterior upper and posterior lower limbs.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | FLNC-related handgrip and calf weakness-distal myopathy | Distal ABD-filaminopathy |
| fr | Myopathie distale avec faiblesse de la poignée et du mollet associée à FLNC | Filaminopathie ABD distale |
| de | Distale Myopathie mit Beteiligung der posterioren Bein- und anterioren Handmuskulatur | Distale ABD-Filaminopathie · Distale Myopathie Typ 4 · FLNC-assoziierte Myopathie mit Hand- und Wadenschwäche |
| es | Miopatía distal con debilidad de agarre y en la pantorrilla asociada a FLNC | Filaminopatía ABD distal |
| it | Debolezza della presa della mano e del polpaccio-miopatia distale correlata a FLNC | ABD-filaminopatia distale |
| nl | FLNC-gerelateerde myopathie met zwakte van handgreep en kuit | Distale ABD-filaminopathie |
| pt | Miopatia distal com fraqueza de preensão manual e dos músculos da barria da perna FLNC-relacionada | |
| pl | Związane z FLNC osłabienie dłoni i podudzi – miopatia dystalna | = en |
| cs | Distální myopatie s postižením zadní skupiny svalů nohy a přední skupiny svalů ruky | Distální ABD-filaminopatie |
| uk | Дистальна міопатія із залученням задньої частини ноги та передньої частини руки | Дистальна ABD-філамінопатія |
| zh | 远端肌病伴后腿及前手受累 | 远端ABD一细丝蛋白病 |
| tr | Arka bacak ve anterior el tutulumu ile seyreden distal miyopati | Distal ABD-filaminopati |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 614065 | E | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C75 | NTBT | index | validated |
| MONDO | 0013550 | E | validated | |
| UMLS | C4518807 | 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 (1):
- ORPHA:206650Autosomal dominant distal 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 |
|---|---|---|---|---|---|---|---|---|
| FLNC | Disease-causing germline mutation(s) in | Assessed | HGNC:3756 | ENSG00000128591 | 102565 | 7q32.1 | filamin C | 21620354[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 16 cases | Worldwide | Case(s) | Validated | 15824355[PMID]_21620354[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15824355[PMID]_21620354[PMID] |
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
22 annotations · validated 2019-01-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003738 | Exercise-induced myalgia | |
| HP:0001288 | Gait disturbance | |
| HP:0002600 | Hyporeflexia of lower limbs | |
| HP:0002540 | Inability to walk | |
| HP:0008954 | Intrinsic hand muscle atrophy | |
| Frequent (79-30%) | ||
| HP:0009046 | Difficulty running | |
| HP:0009053 | Distal lower limb muscle weakness | |
| HP:0031177 | Finger flexor weakness | |
| HP:0009027 | Foot dorsiflexor weakness | |
| HP:0002141 | Gait imbalance | |
| HP:0012515 | Hip flexor weakness | |
| HP:0006389 | Limited knee flexion | |
| Occasional (29-5%) | ||
| HP:0001626 | Abnormality of the cardiovascular system | |
| HP:0001638 | Cardiomyopathy | |
| HP:0006135 | Decreased finger mobility | |
| HP:0008959 | Distal upper limb muscle weakness | |
| HP:0030200 | Fatiguable weakness of proximal limb muscles | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| HP:0030319 | Weakness of facial musculature | |
| Excluded (0%) | ||
| HP:0002015 | Dysphagia | |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0003474 | Somatic sensory dysfunction | |
Run the differential on the 5 obligate / very frequent terms
Annotation source: 15824355[PMID]_21620354[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/63273
- This record as JSON: /data/d/63273.json