Autosomal recessive limb-girdle muscular dystrophy type 2Q
Autosomal recessive limb-girdle muscular dystrophy type 2Q
Definition
A form of limb-girdle muscular dystrophy characterized by proximal muscle weakness presenting in early childhood (with occasional falls and difficulties in climbing stairs) and a progressive course resulting in loss of ambulation in early adulthood. Muscle atrophy and multiple contractures have also been reported in rare cases.
Also known as LGMD2Q, muscular dystrophy, limb-girdle, autosomal recessive 17, muscular dystrophy, limb-girdle, type 2Q — per MONDO