POGLUT1-related limb-girdle muscular dystrophy R21Go to external page http://www.orpha.net/ORDO/Orphanet_480682
A rare autosomal recessive limb-girdle muscular dystrophy characterized by adult onset of progressive muscle weakness and atrophy in the proximal upper and lower limbs, leading to scapular winging and loss of independent ambulation. Respiratory function may become impaired in the course of the disease. Fatty degeneration of internal regions of thigh muscles sparing external areas has been reported, as well as a reduction of alpha-dystroglycan in muscle biopsies.
Synonyms: POGLUT1-related LGMD R21 LGMD2Z Limb-girdle muscular dystrophy type 2Z LGMD type 2Z Autosomal recessive limb-girdle muscular dystrophy type 2Z
- OMIM:617232 (E (Exact mapping: the two concepts are equivalent))
- ICD-10:G71.0 (- NTBT (ORPHA code's Narrower Term maps to a Broader Term). - Attributed (The ICD10 code is attributed by Orphanet).)