A case of neuromuscular mimicry.
until further notice
SourceNeuromuscular Disorders, 16, 8, (2006), pp. 510-513
Article / Letter to editor
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SubjectDCN 1: Perception and Action; DCN 2: Functional Neurogenomics; IGMD 3: Genomic disorders and inherited multi-system disorders; IGMD 8: Mitochondrial medicine; IGMD 9: Renal disorder; NCEBP 10: Human Movement & Fatigue; NCMLS 3: Growth and differentiation; UMCN 3.1: Neuromuscular Development and genetic Disorders; UMCN 5.1: Genetic defects of metabolism; NCEBP 10: Human Movement & Fatigue; NCMLS 3: Growth and differentiation
Recognizing an ALS-mimic can be challenging. Here, we describe a patient with a slowly progressive dysarthria and dysphagia, with fasciculations of the tongue and general hyperreflexia, fulfilling the diagnostic criteria of 'clinical probable ALS'. Because of a non-conclusive EMG, a muscle biopsy was performed that surprisingly showed widespread nemaline rods. The clinical features and the histological findings were compatible with a sporadic late onset nemaline myopathy. Three years after initial presentation the patient died and post-mortem examination not only showed nemaline bodies in every muscle examined, but also revealed an unsuspected final diagnosis: sarcoid brainstem encephalitis. Nemaline rods can be found in various disorders, and neurosarcoidosis should be added to this list.
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