Muscle filaminopathy
Synonyms: FLNC-associated myofibrillar myopathy · Filamin C-related filaminopathy · MFM5
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Muscle filaminopathy is a rare myofibrillar myopathy characterized by slowly progressive, proximal skeletal muscle weakness, which is initially more prominent in lower extremities and involves upper extremities with disease progression. Patients present with difficulty climbing stairs, a waddling gait, marked winging of scapula, lower back pain, paresis of limb girdle musculature, hypo-/areflexia and/or mild facial muscle weakness in rare cases. Respiratory muscle weakness is common and cardiac anomalies (conduction blocks, tachycardia, diastolic dysfunction, left ventricular hypertrophy) have been reported in some cases.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Muscle filaminopathy | FLNC-associated myofibrillar myopathy · Filamin C-related filaminopathy · MFM5 |
| fr | Filaminopathie musculaire | Myopathie myofibrillaire liée à la filamine C |
| de | Filaminopathie, muskuläre | FLNC-assoziierte myofibrilläre Myopathie · Filamin C-assoziierte Filaminopathie · MFM5 |
| es | Filaminopatía muscular | Filaminopatía asociada a la filamina C · MFM5 · Miopatía miofibrilar asociada a FLNC |
| it | Miopatia miofibrillare correlata a FLNC | |
| nl | Spierfilaminopathie | FLNC-geassocieerde myofibrillaire myopathie · Filamine C-gerelateerde filaminopathie · MFM5 |
| pt | Filaminopatia muscular | Filaminopatia filamina c-relacionada · MFM5 · Miopatia miofibrilar FLNC-relacionada |
| pl | Filamentopatia mięśniowa | Filaminopatia mięśniowa |
| cs | Svalová filaminopatie | = en |
| uk | Мязова філамінопатія | Філамінопатія, повязана з філаміном С · FLNC-асоційована міофібрилярна міопатія · MFM5 |
| zh | 肌纤维性肌病 | |
| tr | Kas filaminopatisi |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 609524 | E | validated | |
| ICD-10 | G71.8 | NTBT | attributed | validated |
| ICD-11 | 8C76 | NTBT | index | validated |
| MONDO | 0012289 | E | validated | |
| UMLS | C4707258 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- ORPHA:593Myofibrillar myopathy
rare genetic diseases; rare neurological diseases - ORPHA:209047Qualitative or quantitative defects of filamin C
rare genetic diseases
No children.
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 | 15929027[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
22 annotations · validated 2023-01-19| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0003458 | EMG: myopathic abnormalities | |
| HP:0008180 | Mildly elevated creatine kinase | |
| HP:0008994 | Proximal muscle weakness in lower limbs | |
| Frequent (79-30%) | ||
| HP:0003418 | Back pain | |
| HP:0003551 | Difficulty climbing stairs | |
| HP:0001288 | Gait disturbance | |
| HP:0003555 | Muscle fiber splitting | |
| HP:0002093 | Respiratory insufficiency | |
| Occasional (29-5%) | ||
| HP:0030177 | Abnormality of peripheral nervous system electrophysiology | |
| HP:0001638 | Cardiomyopathy | |
| HP:0012548 | Fatty replacement of skeletal muscle | |
| HP:0034392 | Joint contracture | |
| HP:0025168 | Left ventricular diastolic dysfunction | |
| HP:0001712 | Left ventricular hypertrophy | |
| HP:0009830 | Peripheral neuropathy | |
| HP:0011712 | Right bundle branch block | |
| HP:0003691 | Scapular winging | |
| HP:0030319 | Weakness of facial musculature | |
| Very rare (<4-1%) | ||
| HP:0410011 | Abnormality of masticatory muscle | |
| HP:0030235 | Extremely elevated creatine kinase | |
| HP:0003326 | Myalgia | |
| HP:0003722 | Neck flexor weakness | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 32022900[PMID]_15929027[PMID]_19050726[PMID]_30496909[PMID]_34235269[PMID]_18055494[PMID]_32516863[PMID]_33041974[PMID]_32516863[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/171445
- This record as JSON: /data/d/171445.json