title: A case of Hirayama disease in Pakistan.
abstract: We report a case of Hirayama disease in a 23 year old male presenting with weakness of right hand and forearm. The weakness started gradually, progressed over a period of 12 months and stabilized. Few months after the onset of right-sided weakness, he noticed weakness in the left hand and forearm which increased over a period of 3 months before stabilizing. Neurological examination demonstrated moderate to severe atrophy of distal upper extremity muscles, preserved reflexes and normal sensory findings. Electrophysiological studies revealed neurogenic changes in the muscles innervated by lower cervical spinal cord. Magnetic resonance imaging showed atrophy of mid-cervical cord with high signal intensity in the anterior horn cell region. These examination and investigation findings were compatible with the diagnosis of juvenile muscular atrophy of distal upper extremities (JMADUE) also known as Hirayama disease.
authors.affiliation: Department of Neurology, Dow University of Health Sciences and Civil Hospital, Karachi.
authors.forename: Mahvish
authors.initials: M
authors.lastname: Zahid
authors.forename: Mehmooda
authors.initials: M
authors.lastname: Wasim
authors.forename: Yasir A
authors.initials: YA
authors.lastname: Ghaffar
authors.forename: Naila Naeem
authors.initials: NN
authors.lastname: Shahbaz
authors.forename: Muhammad
authors.initials: M
authors.lastname: Abdullah
authors.forename: Ismail A
authors.initials: IA
authors.lastname: Khatri
mesh_terms: D000328:Adult; D002574:Cervical Vertebrae / Q000473:pathology*; D003937:Diagnosis, Differential; D006801:Humans; D008297:Male; D009134:Muscular Atrophy, Spinal / Q000175:diagnosis* / Q000473:pathology; D010154:Pakistan; D013118:Spinal Cord Diseases / Q000175:diagnosis / Q000473:pathology; D013128:Spinal Osteophytosis / Q000175:diagnosis* / Q000473:pathology