Segmental Spinal Muscular Atrophy Localised to the Lower Limbs First case from Oman
Journal Title: Sultan Qaboos University Medical Journal - Year 2017, Vol 17, Issue 3
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. Te presence of a homozygous deletion within the survival of motor neuron 1 gene confrmed the diagnosis of SMA. To the best of the authors’ knowledge, this is the frst 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.
Authors and Affiliations
Roshan Koul| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Amna Al-Futaisi| Departments of Child Health, Sultan Qaboos University Hospital, Muscat, Oman, Khalid Al-Tihli| Departments of Genetics, Sultan Qaboos University Hospital, Muscat, Oman, Zandre Bruwer| Departments of Genetics, Sultan Qaboos University Hospital, Muscat, Oman, Patrick Scott| Departments of Genetics, Sultan Qaboos University Hospital, Muscat, Oman
Keywords
Related Articles
- EP ID EP14804
- DOI 10.18295/squmj.2017.17.03.018
- Views 337
- Downloads 22
Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset
Similarities between a mitochondrial disorder (MID) and amyotrophic lateral sclerosis (ALS) fade with disease progression and the development of mitochondrial multiple organ dysfunction syndrome (MIMODS). However, with...
Shigellosis Outbreak in Al Batinah South Governorate, Oman Case-control study
Objectives: An outbreak of acute gastroenteritis due to Shigella flexneri occurred in August 2012 in the catchment area of the Wadi Sahtan Health Center in Rustaq, Al Batinah South Governorate, Oman. Te aim of this st...
Comparison between Three Different Equations for the Estimation of Glomerular Filtration Rate in Omani Patients with Type 2 Diabetes Mellitus
Objectives: Estimated glomerular fltration rate (eGFR) is an important component of a patient’s renal function profle. Te Modifcation of Diet in Renal Disease (MDRD) equation and the Chronic Kidney DiseaseEpidemiology...
Students’ Perceived Benefits of Integrating a BSc in Health Sciences within a Medical Degree at Sultan Qaboos University
Objectives: After completing the pre-clinical phase of a Doctor of Medicine (MD) curriculum, undergraduate medical students may choose to add a Bachelor of Science (BSc) degree in health sciences to their MD degree. Limi...
Double Inferior Vena Cava