Familial monomelic amyotrophy: a case report from India.
Monomelic amyotrophy (MMA) is a benign lower motor neuron disorder in the young with male preponderance. It is characterized by insidious onset and progressive weakness and wasting of a distal extremity over a few years followed by spontaneous arrest. The exact pathogenesis is unknown. It is predominantly a sporadic disorder but rarely familial forms have been documented. In this report, we describe the phenotype of a 21-year-old man and his mother who were diagnosed to have MMA. The index case presented with left upper limb weakness and wasting of 3 years duration while his mother had right upper limb amyotrophy and weakness of 34 years. A total of 190 patients were diagnosed to have MMA in our institute over the last 27 years and this is the first case of familial MMA.
Nalini
A
A
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore 560 029, India. nalini@nimhans.kar.nic.in
Lokesh
L
L
Ratnavalli
E
E
D000328:Adult; D004576:Electromyography / Q000379:methods; D005260:Female; D006225:Hand / Q000473:pathology; D006801:Humans; D007194:India; D008297:Male; D008875:Middle Aged; D016472:Motor Neuron Disease / Q000473:pathology* / Q000503:physiopathology*; D018482:Muscle, Skeletal / Q000473:pathology*; D009133:Muscular Atrophy / Q000473:pathology* / Q000503:physiopathology*; D009431:Neural Conduction / Q000502:physiology; D013116:Spinal Cord / Q000473:pathology