Mitochondrial disease: mimics and chameleons
نویسندگان
چکیده
منابع مشابه
Mitochondrial disease: mimics and chameleons.
Mitochondrial diseases are inherited disorders of oxidative phosphorylation that present with a multitude of clinical features in different combinations and with various inheritance patterns. To complicate the issue further, the clinical features of mitochondrial disorders overlap with common neurological and non-neurological diseases. This presents a diagnostic challenge: when is a rare mitoch...
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Parkinson's disease (PD) is a common neurodegenerative condition that usually presents with symptoms related to asymmetric bradykinesia, resting tremor, rigidity and postural instability. Making the correct diagnosis can be challenging as many conditions-including tremor, gait and atypical parkinsonian disorders-can mimic PD. PD can present with unanticipated motor and non-motor symptoms, and s...
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The progression of motor neurone disease (MND) is currently irreversible, and the grave implications of diagnosis naturally fuels concern among neurologists over missing a potential mimic disorder. There is no diagnostic test for MND but in reality there are few plausible mimics in routine clinical practice. In the presence of a progressive pure motor disorder, signs such as florid fasciculatio...
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The diagnosis of spinal cord disease may be delayed or missed if the presentation does not conform to the expected pattern of a symmetrical spastic paraparesis with sphincter dysfunction and a sensory level. This may occur when a myelopathy has yet to evolve fully, or is highly asymmetrical, as in Brown-Séquard syndrome. Other potential distractions include fluctuating symptoms, as may accompan...
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ژورنال
عنوان ژورنال: Practical Neurology
سال: 2015
ISSN: 1474-7758,1474-7766
DOI: 10.1136/practneurol-2015-001191