Initially, I posted my situation in early October at which time I stated that I have Malignant Hyperthermia (diag. via biopsy, 1999) and that I was scheduled to see a neuromuscular doc for severe/pervasive muscle cramping/stiffness throughout my body (but primarily in upper back and lower legs)...at that time you replied w/ the following thoughts:
central core disease, myotonic dystrophy, and proximal myotonic myopathy. Since my initial posting I've had an EMG w/ results that stated "EMG showed SASD's in all muscles tested." WHAT IS/ARE SASD's? Note: I've since learned (over past several weeks) that my mother, 2 sisters, 1 brother, and a cousin have some similar symptoms.
My primary question is this: It seems as though many of the myopathies w/ symptoms similar to mine (e.g., Muscle stiffness, Muscle twitching, Muscle cramping, Increased Sweating, Delayed muscle relaxation, Pharyngeal Dysphagia, Poor/fitful sleep, Migraines, and Fatigue) are diagnosed earlier in life, whereas I'm 38 and have only started having problems in the past 3-5 years. More specifically, I've only started to develop these symptoms since my 1999 surgery, during which I had an MH reaction during a surgical procedure. I'd sure appreciate any additional thoughts. P.s., I have a follow up appointment for a muscle biopsy in 6 months. Sincerely, Steve
I am not familar with the abbreviation SASD's. I asked one of our EMG people, and they were also not aware of it's meaning. You are correct many of these conditions can occur at younger ages, however some of these conditions can be seen later in life. The muscle biopsy should be able to provide a diagnosis. If you are not being evaluated at an academic center you may wish to obtain an opinion. They typically have more experience dealing with rare disorders. Good luck.
Although Isaac's syndrome is rare, your symptoms seem to match (especially the excessive sweating). You should have labs done for CK (elevated in 50%), K+ antibodies. There is no cure for Isaac's syndrome. Its course is varied and symptoms fluctuate. They are exacerbated by exercise. Treatment is symptomatic, involving anti-seizure and immunosuppressive treatments.
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