Segmental spinal muscular atrophy localised to the lower limbs: First case from Oman

Roshan Koul, Amna Al-Futaisi, Khalid Al-Thihli, Zandre Bruwer, Patrick Scott

Research output: Contribution to journalArticle

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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.

Original languageEnglish
Pages (from-to)e355-e357
JournalSultan Qaboos University Medical Journal
Volume17
Issue number3
DOIs
Publication statusPublished - Aug 1 2017

Fingerprint

Oman
Spinal Muscular Atrophy
Lower Extremity
Spinal Cord
Anterior Horn Cells
Motor Neuron Disease
Muscle Weakness
Motor Neurons
Skeletal Muscle
Genes
Segmental Spinal Muscular Atrophy
Therapeutics

Keywords

  • Case report
  • Muscle weakness
  • Oman
  • Pes cavus
  • Segmental
  • Spinal muscular atrophies of childhood
  • Spinal muscular atrophy

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Segmental spinal muscular atrophy localised to the lower limbs : First case from Oman. / Koul, Roshan; Al-Futaisi, Amna; Al-Thihli, Khalid; Bruwer, Zandre; Scott, Patrick.

In: Sultan Qaboos University Medical Journal, Vol. 17, No. 3, 01.08.2017, p. e355-e357.

Research output: Contribution to journalArticle

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