Abstract

Limb-girdle muscular dystrophy (LGMD) comprises a heterogeneous group of rare genetic disorders characterised by progressive weakness and atrophy of the muscles, primarily affecting the pelvic and shoulder girdles. A developmentally normal, early adolescent male presented with complaints of difficulty in using all four limbs with a waddling gait, gradually progressive over the last 5 years. No significant family history was noted. We noticed thinning and atrophy of both upper and lower limbs, proximal more than distal, associated with wasting, hypotonia and decreased power in all four limbs. Gower’s sign was positive. The winging of the scapula was present. All deep tendon reflexes and superficial reflexes were present with flexor response in both plantars. The sensory system was normal. An initial diagnosis of muscular dystrophy was made and confirmed with clinical exome sequencing, which showed a pathogenic variant indicating a very rare type of autosomal recessive LGMD. This disease was previously named LGMD2C and has now been renamed under LGMDR5.