Living with Distal myopathy with vocal cord weakness
A genetic muscle condition that begins in adulthood and weakens the lower legs, forearms, vocal cords, and throat.
Understanding Distal myopathy with vocal cord weakness
This form of muscular dystrophy starts in adulthood. Weakness often begins in the ankles and can spread to the hands, wrists, and shoulders. It may start on one side and later affect both. A key feature is weakness of the vocal cords and throat. The voice may sound weak, then hoarse and nasal, and swallowing can become difficult. Over time, walking and lifting the fingers can get harder.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the ankles
- Trouble walking
- Weak, hoarse, or nasal voice
- Trouble swallowing (dysphagia)
- Slurred or hard-to-form speech (dysarthria)
- Weak breathing muscles
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists and genetic specialists.
- 3Consider genetic testing
Changes in MATR3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Muscular Dystrophy Association
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with Muscular Dystrophy Association
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
GARD says changes in the MATR3 gene cause this condition. It is autosomal dominant, meaning one changed copy of the gene can cause it.
Also known as: distal myopathy 2; matr3-related distal myopathy; matrin 3 distal myopathy; myopathia distalis type 2; vcpdm; vcpdm - vocal cord and pharyngeal distal myopathy
Patient organizations
- Muscular Dystrophy AssociationDistal myopathy with vocal cord weakness · United States
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Perspectives from people navigating life with Distal myopathy with vocal cord weakness.
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