Neuromuscular Case Vignettes

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Case 15: Further diagnostic tests, discussion

Diagnosis–Eaton myasthenic syndrome (LEMS)As history and electrodiagnostic tests were suggestive for myasthenic syndrome, he underwent serological testing for that condition: Ca channel P/Q antibody: 2.16 nmol/L (normal < 0.02), Ca channel N antibody:...

Case 14: Diagnosis and discussion

Diagnosis: familial amyotrophic lateral sclerosis (FALS) Genetic testing for chromosome 9 open reading frame 72 (C9ORF72) showed repeat numbers of >44 and 8 (normal <30). Although FALS constitutes about 10% of  ALS patients (the other 90% are termed sporadic...