abnormal muscle biopsy no slow myosin heavy chain

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  cohlava | published 5 months ago | Originally written in English abnormal muscle biopsy no slow myosin heavy chain

  Until last week we thought my 4 year son might have HSP or MITO. His recent muscle biopsy came back last week. I sat with the genetecist today. After staining the muscle 3 times the pathologist has found... No slow myosin thick chain. They have never heard of or seen this before. They have seen no fast myosin but never a complete asbence of slow . So... now what? They took more blood today to check a specific gene that may have been mutated. Now we wait another 4 weeks.
  What does this all mean? Will he get worse, will he be in pain, how can I help him? They don't know unless we can find another patient also missing slow myosin it's a waiting game. They want to put him in a research study. Which I will gladly do incase we could eventually help anyone else.
  In the mean time... can anyone help me?
  One reply to the topic — see all replies

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    amlockwo published 5 months ago | Originally written in English

    I am sorry to hear about your son. I have HSP and am the President of the Spastic Paraplegia Foundation in the US and CDA. I sent a copy of your note to Dr. Fink who is our Medical Advisor. He would like to respond to you directly. Please send me a note at annette.lockwood@sp-foundation.org and I will forward your email to Dr. Fink.

    Annette