Living with Congenital myopathy with reduced type 2 muscle fibers
A rare genetic muscle condition with severe weakness, low muscle tone, and breathing trouble from birth.
Understanding Congenital myopathy with reduced type 2 muscle fibers
Muscle samples show few or no type II muscle fibers. Babies have low muscle tone and breathing failure at birth. Weakness is mild in the face and severe in the trunk, arms, and legs, with absent reflexes and mild joint contractures. Eye movements and heart function are normal. Signs can start before birth, such as less fetal movement and extra amniotic fluid.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone (hypotonia)
- Breathing trouble from weak muscles
- Feeding difficulties
- Weak neck, trunk, and limbs
- Absent reflexes
- Less fetal movement before birth
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 MYL1 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
It is caused by changes in the MYL1 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital myopathy 14; congenital myopathy with fast-twitch fiber atrophy; congenital myopathy with reduced type ii muscle fibers; congenital myopathy with type 2 muscle fiber atrophy; congenital myopathy with type ii fiber atrophy; myopathy, congenital, with fast-twitch (type ii) fiber atrophy
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 Congenital myopathy with reduced type 2 muscle fibers.
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