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Resident is a female in late forties, wheelchair bound; symptoms include constant mild shaking, hard to understand speech, (she was MR at birth) Currently she takes 7 mg of Klonopin a day (yes I said 7). Accept for mild retardation she was completely normal until the age of 15 when DBD and Myoclonic Epilepsy were diagnosed. she has been stable for 20 years, but recently she has episodes of severe tremors and has lost the ability to know when she must urinate. I am praying that GP will recommend a nuerological exam, (her last nuero exam was 10 years ago).
Any suggestions
Dear Johanna:
I would suspect that unless this is a JME misdiagnosed, your resident might have one of the progressive epilepsies. I am not sure what you mean by resident, but assuming that this is a person who is older, one of the mitochondrial diseases might be the etiologies. But the differential is large, I would have your resident see a neurologist.
CCF Neuro MD
Resident has also been diagnosed with Myoclonis Epilepsy, could this be a more specific diagnosis for the same illness?
Dear Joanna Carson:
Degenerative brain disease is a blanket term. There are many, many reasons for degenerative brain disease. There are metabolic, genetic, infectious, toxic, systemic, and congenital reasons why the cerebellum would undergo degeneration. One need to know the MRI, systemic diseases the patient has, the neurological exam is important, patient and family history, lab results, etc before an etiology is known.
CCF Neuro MD