A 22 yrs married lady presented with the history of 2 months weakness of one lower limb in the form difficulty in standing from squatting position. she belongs to hilly area so she also noticed difficulty in walking after few meters, which she used to walk very easily prior to illness. her weak limb also showing atrophy of calf muscle. Immuno histochemistry was suggestive of dysferlinopathy. I was surprised with the acuteness of weakness and marked asymmetry of the problem.
Dear Arshad,
Sounds like a very interesting case. Can you please clarify the age of your patient? Is she 22? I am not a clinician but my research involves neuromuscular junction and generally I am interested with muscle wasting. I would like to follow this and see if anybody else comes with a better answer. I have seen this following article I am not sure if you have it. It is talking about defects in muscle membrane repair mechanisms which may explain the acuteness that you have seen in you patient. Please let me know if you cant get the pdf, I can e-mail it to you.
J Clin Pathol 2005;58:190-195 doi:10.1136/jcp.2004.018978
Ultrastructural changes in dysferlinopathy support defective membrane repair mechanism by G Cenacchi, M Fanin, L B De Giorgi, C Angelini
best wishes, Refik
Dear Refik
Thanks for showing interest. Age of the lady is 22 years.please provide pdf of the study, you want to refer.
Best wishes, arshad
Thank you Arshad,
If you send me your e-mail or message me through RG, I will forward it you.
best wishes, Refik
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