Living with X-linked myopathy with postural muscle atrophy
A rare, slowly worsening muscle disease starting in adulthood that affects the shoulders, spine, and lower legs.
Understanding X-linked myopathy with postural muscle atrophy
It affects the muscles of the shoulders, the center of the body (posture muscles), and the lower legs. Features include shoulder blade winging, wasting of posture muscles along with enlarged muscles, a stiff neck and spine, and tight Achilles tendons. Breathing trouble can develop later.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Winged shoulder blades
- Weakness in the shoulders and lower legs
- Stiff neck and spine
- Tight Achilles tendons and hamstrings
- Thickened heart muscle (hypertrophic cardiomyopathy)
- Back pain and scoliosis
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.
- 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
This condition is caused by changes in the FHL1 gene and follows X-linked inheritance.
Also known as: fhl1-related emery-dreifuss muscular dystrophy, x-linked; myopathy, x-linked, with postural muscle atrophy, x-linked recessive; xmpma; xmpma - x-linked myopathy with postural muscle atrophy
Patient organizations
- Muscular Dystrophy AssociationX-linked myopathy with postural muscle atrophy · United States
You are more than your diagnosis
Perspectives from people navigating life with X-linked myopathy with postural muscle atrophy.
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