ArticleSultan Qaboos University medical journal2016
Mitochondrial Disorders May Mimic Amyotrophic Lateral Sclerosis at Onset.
Article in Sultan Qaboos University medical journal, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 9 citations in OpenAlex.
- Misdiagnosis: Hypoglossal palsy mimicking bulbar onset amyotrophic lateral sclerosis.eNeurologicalSci · 2019Article
- Aseptic meningitis as a manifestation of a mitochondrial disorder.Archives of medical science : AMS · 2018Article
- Heteroplasmy of the m.3243A>G Mutation May Influence Phenotypic Heterogeneity.Internal medicine (Tokyo, Japan) · 2017Article
- Renal manifestations of primary mitochondrial disorders.Biomedical reports · 2017Article
- Involvement of the Spinal Cord in Mitochondrial Disorders.Journal of neurosciences in rural practiceReview
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
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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. This 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.
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Registered trials
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