Living with Autosomal recessive centronuclear myopathy
An inherited muscle condition that causes weakness, starting in infancy or early childhood.
Understanding Autosomal recessive centronuclear myopathy
It is one type of a group of rare muscle conditions called centronuclear myopathies. Features can include muscle weakness that slowly gets worse, foot differences, a high palate, scoliosis, drooping eyelids, and delayed motor skills. Breathing problems range from mild to severe. Heart muscle disease is less common.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness that slowly gets worse
- Low muscle tone (hypotonia)
- Delayed motor skills
- Trouble running or climbing stairs
- Waddling walk
- Breathing problems (respiratory insufficiency)
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
Joshua Frase Foundation 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: Joshua Frase Foundation
- 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 Joshua Frase 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
Most cases are caused by changes in the BIN1 gene. Some families have changes in the SPEG, TTN, or RYR1 genes. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: ar-cnm; centronuclear myopathy, autosomal recessive; centronuclear myopathy, recessive
Patient organizations
- Joshua Frase FoundationAutosomal recessive centronuclear myopathy · United States
- Team TitinAutosomal recessive centronuclear myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Autosomal recessive centronuclear myopathy.
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