Living with Facioscapulohumeral muscular dystrophy
A genetic muscle condition that causes slowly worsening weakness, first in the face, shoulders, and upper arms.
Understanding Facioscapulohumeral muscular dystrophy
Symptoms usually start in the teen years, but can begin later or, rarely, in infancy. Facial weakness can make it hard to whistle or smile. Weak shoulder muscles can make the shoulder blades stick out. Weakness slowly worsens over decades and may spread to the legs and hips.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness of face muscles
- Eyelids that do not close fully at night
- Shoulder and upper arm weakness
- Foot drop with frequent falls
- Weak belly and hip muscles
- Chronic pain
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 SMCHD1 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
FSHD Society and 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: FSHD Society, 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 FSHD Society and other patient organizations
- 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
Changes in the SMCHD1 gene are one cause. It is autosomal dominant, which means a change in one copy of the gene can cause it.
Also known as: facioscapulohumeral dystrophy; facioscapulohumeral myopathy; fascioscapulohumeral muscular dystrophy; fmd - facioscapulohumeral muscular dystrophy; fsh - facioscapulohumeral muscular dystrophy; fsh dystrophy
Patient organizations
- FSHD SocietyFacioscapulohumeral muscular dystrophy · United States
- Muscular Dystrophy AssociationFacioscapulohumeral muscular dystrophy · United States
- Friends of FSH ResearchFacioscapulohumeral muscular dystrophy · United States
You are more than your diagnosis
Perspectives from people navigating life with Facioscapulohumeral muscular dystrophy.
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