Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset
Journal Title: Sultan Qaboos University Medical Journal - Year 2016, Vol 16, Issue 1
Abstract
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 mild MIMODS, a MID may still be misinterpreted as ALS. We report a 48-year-old male who presented to the Neurological Hospital Rosenhügel, Vienna, Austria, in February 2001 with slowly progressive weakness, wasting and left upper limb fasciculations which spread to the shoulder girdle and lower limbs. Additionally, he developed tetraspasticity and bulbar involvement. He had been diagnosed with ALS a year previously due to electrophysiological investigations indicative of a chronic neurogenic lesion. However, a muscle biopsy revealed morphological features of a MID and a combined complex-II/III defect. Nerve conduction studies were performed over subsequent years until February 2011. Tis case demonstrates that MIDs may mimic ALS at onset and begin as a mono-organ disorder but develop into a multi-organ disease with long-term progression. A combined complex II/III defect may manifest with bulbar involvement.
Authors and Affiliations
Josef Finsterer| Department of Neurology, Krankenanstalt Rudolfstiftung, Vienna, Austria, Sinda Zarrouk-Mahjoub| Genomics Platform, Pasteur Institute of Tunis, Tunis, Tunisia
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