Living with Myopathy, distal, 5
A rare inherited muscle condition with slowly worsening weakness that starts in childhood and later affects the hands and feet.
Understanding Myopathy, distal, 5
Weakness is first widespread in childhood, then mostly affects the muscles farthest from the center of the body (the hands and feet) in the teen years. Thigh muscle weakness may appear around the fourth decade. Facial muscle weakness is commonly reported.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness in the lower legs and feet
- Foot drop
- Trouble climbing stairs
- Difficulty running
- Weakness in hands and arms
- Tiring easily when chewing
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 ADSS1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- 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 Cure ADSSL1
- 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 lists changes in the ADSS1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: adenylosuccinate synthetase-like 1-related distal myopathy; adssl1 distal myopathy; adssl1-related distal myopathy; distal myopathy caused by mutation in adssl1; mpd5; myopathy, distal, 5
Patient organizations
- Cure ADSSL1Myopathy, distal, 5 · United States
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Perspectives from people navigating life with Myopathy, distal, 5.
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