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Congenital Muscular Dystrophy with Cataracts and Intellectual Disability
A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that is caused by homozygous or compound heterozygous mutation in the INPP5K g
This information is for educational purposes only and is not medical advice. Always consult your healthcare provider about your specific condition and treatment.
When to seek help
Seek medical help right away if you have severe, sudden, or worsening symptoms, trouble breathing, chest pain, or any symptom that feels life-threatening. This community is for peer support and education only and is not a substitute for professional medical advice.
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Overview
A congenital muscular dystrophy characterized by onset of progressive muscle weakness in early childhood with autosomal recessive inheritance that is caused by homozygous or compound heterozygous mutation in the INPP5K g
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Posts in this community reflect personal experiences, not medical advice. Always talk to your doctor before changing your treatment.