Living with Congenital myopathy with fiber type disproportion
A genetic muscle condition that causes weakness, often starting in infancy, and can affect breathing and swallowing.
Understanding Congenital myopathy with fiber type disproportion
People typically have weak muscles in the shoulders, upper arms, hips, and thighs. Weakness can also affect the face and eye muscles, sometimes causing droopy eyelids. About 30 percent of people have breathing problems, and about 30 percent have trouble swallowing. Some have a long face, a high-arched palate, crowded teeth, joint contractures, or a curved spine. Severity varies widely, from severe weakness at birth to mild weakness that appears in adulthood. Signs usually appear by age 1.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Muscle weakness and easy tiring
- Delayed movement skills (motor delay)
- Trouble swallowing or feeding
- Breathing trouble from weak muscles
- Tight joints (contractures)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 4Connect with expert centers
RYR-1 Foundation 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: RYR-1 Foundation, 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 RYR-1 Foundation 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
GARD says changes in genes cause this condition. It can be autosomal dominant, autosomal recessive, or X-linked, depending on the family.
Also known as: cftdm; congenital fiber-type disproportion; congenital fiber-type disproportion myopathy; congenital myopathy with fibre type disproportion
Patient organizations
- RYR-1 FoundationCongenital myopathy with fiber type disproportion · United States
- Muscular Dystrophy AssociationCongenital myopathy with fiber type disproportion · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital myopathy with fiber type disproportion.
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