نتایج جستجو برای: spinal muscular atrophy
تعداد نتایج: 176516 فیلتر نتایج به سال:
It has been known for some time that cases of muscular atrophy can occur in young people which clinically resemble limb girdle muscular dystrophy but which electromyographically and histologically can be shown to be due to damage to the spinal motor neurone. Investigation of the family frequently reveals further cases, and the course and prognosis is often benign and relatively non-progressive ...
Background: The spinal muscular atrophy (SMA) is an autosomal recessive hereditary neuromuscular disease, categorized into 4 types according to the severity. Type 2 considered intermediate form. There are three medication options approved by ANVISA for SMA treatment: Spinraza, Ridisplam and Zolgensma.
A family with juvenile proximal spinal muscular atrophy with dominant inheritance and complete penetrance is reported. The disease occurred in three generations and showed high variations in the age of onset and progression among the affected members. A characteristic feature was the constant involvement of facial nuclei.
One of the greatest thrills a biomedical researcher may experience is seeing the product of many years of dedicated effort finally make its way to the patient. As a team, we have worked for the past eight years to discover a drug that could treat a devastating childhood neuromuscular disease, spinal muscular atrophy (SMA). Here, we describe the journey that has led to a promising drug based on ...
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