Living with Congenital muscular dystrophy with intellectual disability
A rare genetic muscle condition with weakness from infancy, along with intellectual disability and brain differences.
Understanding Congenital muscular dystrophy with intellectual disability
It involves a problem with sugar chains on a muscle protein called alpha-dystroglycan. It ranges widely in how it shows up. Babies have low muscle tone and weakness, and movement skills are delayed or stop developing. Intellectual disability can be mild to severe, and brain scans can show differences. Feeding trouble, joint and spine changes, breathing problems, and eye problems can also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Low muscle tone in infancy (floppy infant)
- Muscle weakness
- Delayed motor skills
- Intellectual disability
- Feeding difficulties
- 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.
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
Changes in genes cause this condition. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: cmd with intellectual disability; cmd-mr
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 muscular dystrophy with intellectual disability.
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