Fukutin-related limb-girdle muscular dystrophy R13

Orpha code: 206554OMIM code: 611588

Definition

A form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

Disease data
Classification

Disease

Synonyms
Autosomal recessive LGMD type 2M
LGMD2M
Autosomal recessive limb-girdle muscular dystrophy type 2M
Fukutin-related LGMD R13
LGMD type 2M
LGMD2M
ORPHA code
206554
OMIM code
611588
ICD10 code
G71.0
ICD11 code
-

No additional description.

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