distal myopathy with vocal cord weakness
Findings
No curated finding names distal myopathy with vocal cord weakness yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Distal myopathy with vocal cord and pharyngeal weakness is an adult-onset, autosomal dominant muscular disease which is characterized by muscle weakness in the feet and hands, combined with vocal or swallowing dysfunction.
Definition from the Mondo Disease Ontology (MONDO:0018951), read 2026-09-29. CC BY 4.0.
Features
29 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal calf musculature morphologyHPOHP:0001430
- Frequent (30% to 79% of cases)
- Abnormal morphology of musculature of pharynxHPOHP:0430015
- Frequent (30% to 79% of cases)
- Amyotrophic lateral sclerosisHPOHP:0007354
- Frequent (30% to 79% of cases)
- Ankle weaknessHPOHP:0031374
- Frequent (30% to 79% of cases)
- AspirationHPOHP:0002835
- Frequent (30% to 79% of cases)
- Bowing of the vocal cordsHPOHP:0008756
- Frequent (30% to 79% of cases)
- Bulbar palsyHPOHP:0001283
- Frequent (30% to 79% of cases)
- Distal muscle weaknessHPOHP:0002460
- Frequent (30% to 79% of cases)
- DysarthriaHPOHP:0001260
- Frequent (30% to 79% of cases)
- DysphagiaHPOHP:0002015
- Frequent (30% to 79% of cases)
- EMG abnormalityHPOHP:0003457
- Frequent (30% to 79% of cases)
- Exercise-induced myalgiaHPOHP:0003738
- Frequent (30% to 79% of cases)
Reported absent (1)
- Inflammatory myopathyHPOHP:0009071
Show the remaining 17
- Gait disturbanceHPOHP:0001288
- Frequent (30% to 79% of cases)
- Hoarse voiceHPOHP:0001609
- Frequent (30% to 79% of cases)
- Hypernasal speechHPOHP:0001611
- Frequent (30% to 79% of cases)
- HyperreflexiaHPOHP:0001347
- Frequent (30% to 79% of cases)
- Imperfect vocal cord adductionHPOHP:0005934
- Frequent (30% to 79% of cases)
- Mildly elevated creatine kinaseHPOHP:0008180
- Frequent (30% to 79% of cases)
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- MATR3HGNC:6912
- Definitive · ClinGen · Autosomal dominant · 2024
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
2 names
Resolves to: distal myopathy with vocal cord weakness
- Also called
- MATR3-related distal myopathyVCPDM