关键词: Case Report Muscle Weakness Oman Pes Cavus Segmental Spinal Muscular Atrophies of Childhood Spinal Muscular Atrophy

Mesh : Child Gene Deletion Hand Humans Lower Extremity Male Muscular Atrophy, Spinal / diagnosis epidemiology genetics Oman / epidemiology Survival of Motor Neuron 1 Protein / genetics Talipes Cavus

来  源:   DOI:10.18295/squmj.2017.17.03.018

Abstract:
Spinal muscular atrophy (SMA) is a genetic lower motor neuron disease. It usually involves all of the skeletal muscles innervated by the anterior horn cells of the spinal cord. In rare cases, there is also localised involvement of the spinal cord. We report a 10-year-old boy who presented to the Sultan Qaboos University Hospital, Muscat, Oman, in 2015 with muscle weakness restricted to the lower limbs. The presence of a homozygous deletion within the survival of motor neuron 1 gene confirmed the diagnosis of SMA. To the best of the authors\' knowledge, this is the first report of an Omani patient with segmental SMA involving only the lower limbs. Treatment for this rare and relatively benign form of SMA is symptomatic and includes physiotherapy.
摘要:
暂无翻译
公众号