Rinsho Shinkeigaku (Clinical Neurology)

Case Report

A male patient with adult-onset sporadic calpainopathy presenting with hypertrophy of the upper extremities

Mai Hamaguchi, M.D.1), Hiroaki Fujita, M.D., Ph.D.1), Keisuke Suzuki, M.D., Ph.D.1), Toshiki Nakamura, M.D., Ph.D.2), Ichizo Nishino, M.D., Ph.D.3)4) and Koichi Hirata, M.D., Ph.D.1)

1)Department of Neurology, Dokkyo Medical University
2)Department of Neurology, Rehabilitation Amakusa Hospital
3)Department of Neuromuscular Research, National Institute of Neurology, National Center of Neurology and Psychiatry
4)Department of Clinical Genome Analysis, Medical Genome Center, National Center of Neurology and Psychiatry

A 33-year-old man presented with slowly progressive weakness in the lower extremities over 8 years. At the age of 16 years, the elevation of serum creatine kinase level was detected. Physical examination revealed scapular winging, exaggerated lumbar lordosis and tendoachilles contracture. Gowers sign was positive and proximal dominant limb weakness was noted. Hypertrophy was observed in the upper limbs such as the biceps brachii and forearm flexor muscles. Muscle biopsy showed distinct differences in size of muscle fibers and regenerating and necrotic muscle fibers. A histological study revealed decreased calpain3 expression. Gene analysis of CAPN3 revealed two known gene mutations, leading to a diagnosis of calpainopathy (limb girdle muscular dystrophy 2A; LGMD2A). We here report our patient to discuss findings of upper limb hypertrophy, which are frequently missed compared to the lower limb, but important clinical findings.
Full Text of this Article in Japanese PDF (5337K)

(CLINICA NEUROL, 59: 740|745, 2019)
key words: sporadic adult-onset, calpainopathy, hypertrophy of the upper limbs

(Received: 6-Jun-19)