Limb-girdle muscular dystrophy type 2H
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Description
The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.
Orpha Number: 1878
Definition
A mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement.
Visit the Orphanet disease page for more resources.
Source: GARD Last updated on 05-01-20
Symptoms
Symptoms and their Known Frequencies
Carmel, IN, 46082, United States Phone: +1-317-615-9140 Email: info@mdff.org Url: https://mdff.org/ MDFF provides financial assistance, quality programs and services for the Muscular Dystrophy community in Indiana. Name: Muscular Dystrophy Association MDA 222 S Riverside Plaza Suite 1500
Chicago, IL, 60606, United States Toll Free: 1-833-275-6321 (Helpline) Email: resourcecenter@mdausa.org Url: https://www.mda.org
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