King JO - Progressive myoclonic epilepsy due to Gaucher's disease in an adult. J Neurol Neurosurg Psychiat 38:849, 1975. [ Links ] 25. [scielo.br]

Comment Mitochondrial myopathies can present as rhabdomyolysis or exercise-induced muscle pain, particularly in adolescents and adults. 1, 4 Diagnosis is made by muscle biopsy, but genetic testing is required for genetic counseling, which allows patients [jaoa.org]

These disorders are easily confused with other rheumatic diseases or neurologic conditions, including functional disorders, and are therefore difficult to diagnose. [onlinelibrary.wiley.com]

The initial examination revealed weakness proximally of the upper and lower extremities and nasal speech. There was a suggestion of facial weakness and mild ptosis. She experienced double vision on the extremes of lateral gaze. [onlinelibrary.wiley.com]

Serologic tests for Borrelia burgdorferi, Brucella, Chlamydia pneumoniae, Bartonella henselae and B quintana, Coxiella burnetii, Helicobacter, HBsAg, anti–hepatitis C virus, anti-cytomegalovirus IgG and IgM antibodies, and Epstein–Barr virus (EB V) IgM [journals.sagepub.com]