Living with X-linked scapuloperoneal muscular dystrophy
An inherited muscle condition that causes weakness and thinning of muscles in the lower legs and around the shoulder blades.
Understanding X-linked scapuloperoneal muscular dystrophy
This condition causes weakness and wasting (thinning) of muscles in the lower legs and near the shoulder blades. In some people, the face muscles are affected too. GARD lists the usual onset as adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weaker reflexes (hyporeflexia)
- Foot drop (weakness lifting the front of the foot)
- Weakness and wasting of lower leg muscles
- Weakness of muscles around the shoulder blades
- Sometimes weak face 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 FHL1 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 rare disease patient organizations for support
- 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
Some cases are caused by changes in the FHL1 gene. These are inherited in an X-linked dominant way, meaning the gene is on the X chromosome.
Also known as: scapuloperoneal myopathy, fhl1-related; scapuloperoneal myopathy, x-linked dominant, x-linked dominant; x-linked scapuloperoneal syndrome; x-linked spmd
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked scapuloperoneal muscular dystrophy.
Explore research for X-linked scapuloperoneal muscular dystrophy
Explore actively recruiting X-linked scapuloperoneal muscular dystrophy studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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