Vocal cord and pharyngeal distal myopathy
Synonyms: Distal myopathy with vocal cord weakness · MATR3-related distal myopathy · VCPDM
- Type
- Disease
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Adult
- Status
- active
Vocal cord and pharyngeal distal myopathy (VCPDM) is a rare autosomal dominant distal myopathy characterized by adult onset of muscle weakness in the feet and hands (slowly progressing to involve proximal limb muscles) combined with vocal or swallowing dysfunction and frequent respiratory muscle involvement in later stages. Normal to mildly elevated creatine kinase (CK) serum levels and rimmed-vacuolated dystrophic muscle fiber changes are associated laboratory and pathologic findings.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Vocal cord and pharyngeal distal myopathy | Distal myopathy with vocal cord weakness · MATR3-related distal myopathy · VCPDM |
| fr | Myopathie distale avec faiblesse des cordes vocales | |
| de | Distale Myopathie mit Stimmband- und Pharynxschwäche | Distale Myopathie, MATR3-assoziierte · Myopathie, distale, mit Stimmbandschwäche · Myopathie, distale, mit pharyngealer und Stimmbandschwäche · VCPDM · Vokale und pharyngeale distale Myopathie |
| es | Miopatía distal faríngea y de cuerdas vocales | Miopatía distal asociada a MATR3 · Miopatía distal con debilidad de las cuerdas vocales · VCPDM |
| it | Miopatia distale con debolezza delle corde vocali e della faringe | |
| nl | Distale myopathie van stembanden en farynx | Distale myopathie met stembandzwakte · MATR3-gerelateerde distale myopathie · VCPDM |
| pt | Miopatia distal com fraqueza das cordas vocais | |
| pl | Miopatia dystalna z osłabieniem fałdów głosowych | = en |
| cs | Distální myopatie se slabostí hlasivek | = en |
| uk | Дистальна міопатія голосових звязок і глотки | Дистальна міопатія зі слабкістю голосових звязок · Дистальна міопатія, повязана з MATR3 · VCPDM |
| zh | 声带咽远端型肌病 | 远端型肌病症伴声带松弛 |
| tr | Ses teli ve faringeal distal miyopati | GBGBM · MATR3-ilişkili distal miyopati · Vokal kord zayıflığı ile seyreden distal miyopati |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 606070 | NTBT | validated | |
| ICD-10 | G71.0 | NTBT | attributed | validated |
| ICD-11 | 8C75 | NTBT | index | validated |
| MONDO | 0018951 | E | validated | |
| MeSH | C565262 | E | validated | |
| UMLS | C1853723 | E | validated | |
| GARD | 1887 | 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 (1):
- ORPHA:206650Autosomal dominant distal myopathy
rare genetic diseases; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MATR3 | Disease-causing germline mutation(s) in | Assessed | HGNC:6912 | ENSG00000015479 | 164015 | 5q31.2 | matrin 3 | 19344878[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25952333[PMID]_29628183[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.
HPO phenotypes
30 annotations · validated 2018-11-28| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0430015 | Abnormal morphology of musculature of pharynx | |
| HP:0001430 | Abnormality of the calf musculature | |
| HP:0007354 | Amyotrophic lateral sclerosis | |
| HP:0031374 | Ankle weakness | Diagnostic criterion |
| HP:0002835 | Aspiration | |
| HP:0008756 | Bowing of the vocal cords | Diagnostic criterion |
| HP:0001283 | Bulbar palsy | |
| HP:0002460 | Distal muscle weakness | Diagnostic criterion |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0003457 | EMG abnormality | |
| HP:0003738 | Exercise-induced myalgia | |
| HP:0001288 | Gait disturbance | |
| HP:0001609 | Hoarse voice | |
| HP:0001611 | Hypernasal speech | |
| HP:0001347 | Hyperreflexia | |
| HP:0005934 | Imperfect vocal cord adduction | |
| HP:0008180 | Mildly elevated creatine kinase | Diagnostic criterion |
| HP:0002747 | Respiratory insufficiency due to muscle weakness | |
| HP:0003805 | Rimmed vacuoles | Diagnostic criterion |
| HP:0002317 | Unsteady gait | |
| HP:0001604 | Vocal cord paresis | |
| HP:0001621 | Weak voice | |
| Occasional (29-5%) | ||
| HP:0008049 | Abnormality of the extraocular muscles | |
| HP:0007149 | Distal upper limb amyotrophy | |
| HP:0003547 | Shoulder girdle muscle weakness | |
| Very rare (<4-1%) | ||
| HP:0000762 | Decreased nerve conduction velocity | |
| HP:0000726 | Dementia | |
| HP:0002936 | Distal sensory impairment | |
| Excluded (0%) | ||
| HP:0009071 | Inflammatory myopathy | |
Annotation source: 9837826[PMID]_24686783[PMID]_25154462[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/600
- This record as JSON: /data/d/600.json