Living with Congenital muscular dystrophy due to integrin alpha-7 deficiency
A rare genetic muscle condition with early delays in movement and muscle weakness that may worsen over time.
Understanding Congenital muscular dystrophy due to integrin alpha-7 deficiency
It starts in newborns and infants with slow motor development and weak muscles. In some people the condition then progresses, with more weakness and wasting in muscles near the center of the body, loss of motor skills, scoliosis (curved spine), and breathing problems. It is caused by a problem with a protein in the tissue around muscle cells.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Delayed movement skills (motor delay)
- Muscle weakness
- Low muscle tone (hypotonia)
- Gowers sign (using hands to push up from the floor)
- Intellectual disability
- Wry neck (torticollis)
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 ITGA7 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 ITGA7 gene. It is autosomal recessive, meaning a child inherits a changed copy of the gene from each parent.
Also known as: congenital muscular dystrophy caused by mutation in itga7; congenital muscular dystrophy with integrin alpha-7 deficiency; congenital muscular dystrophy with itga7 (integrin alpha-7) deficiency; congenital muscular dystrophy with itga7 deficiency; congenital myopathy due to integrin alpha-7 deficiency; itga7 congenital muscular dystrophy
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 due to integrin alpha-7 deficiency.
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