Living with Classic multiminicore myopathy
A rare inherited muscle condition with weakness and low muscle tone starting in infancy.
Understanding Classic multiminicore myopathy
It has the features of a congenital myopathy, a muscle condition present from birth. GARD lists onset in the newborn period and infancy. Breathing can be affected by muscle weakness.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Weakness of muscles of the trunk
- Delayed motor skills
- Low muscle tone (hypotonia)
- Muscle wasting
- Slow weight gain
- Episodes of trouble breathing from weak muscles
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.
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 Cure CMD - Congenital Muscular Dystrophy
- 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 lists this condition as autosomal recessive, so a child inherits a changed copy of the gene from each parent. It doesn't name a gene.
Patient organizations
- Cure CMD - Congenital Muscular DystrophyClassic multiminicore myopathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Classic multiminicore myopathy.
Explore research for Classic multiminicore myopathy
Explore actively recruiting Classic multiminicore myopathy studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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