Plectin-related limb-girdle muscular dystrophy R17

What is Plectin-related limb-girdle muscular dystrophy R17?

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.

Other condition names

• Autosomal recessive limb-girdle muscular dystrophy type 2Q
• LGMD type 2Q
• LGMD2Q
• Limb-girdle muscular dystrophy type 2Q
• Plectin-related LGMD R17

Inheritance type

Autosomal recessive

Prevalence

• Worldwide: <1 in 1,000 000

Age of Onset

• Childhood