TNP03-related limb-girdle muscular dystrophy D2
Synonyms: Autosomal dominant limb-girdle muscular dystrophy type 1F | LGMD type 1F | LGMD1F | Limb-girdle muscular dystrophy type 1F
A rare subtype of autosomal dominant limb-girdle muscular dystrophy with a variable age of onset characterized by progressive proximal weakness and wasting of the shoulder and pelvic musculature (with the pelvic girdle and especially the ileopsoas muscle being more affected) and frequent association of calf hypertrophy dysphagia arachnodactyly with or without finger contractures and/or distal and axial muscle involvement. Additional features include an abnormal gait exercise intolerance myalgia fatigue and respiratory insufficiency. Cardiac conduction defects are typically not observed.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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TNP03-related limb-girdle muscular dystrophy D2?
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