RT Journal Article
SR Electronic
T1 Autosomal recessive limb girdle muscular dystrophy-type 5 (LGMDR-5)
JF BMJ Case Reports
JO BMJ Case Reports
FD BMJ Publishing Group Ltd
SP e260321
DO 10.1136/bcr-2024-260321
VO 17
IS 5
A1 Ashokkumar, Hamritha
A1 Bhatia, Sakshi Upendra
A1 Azhagar Nambi Santhi, Vaanmathi
A1 Kumar, Radha
YR 2024
UL http://casereports.bmj.com/content/17/5/e260321.abstract
AB 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.