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Risdiplam, sold under the brand name Evrysdi, is a medication used to treat spinal muscular atrophy (SMA) [6] [9] and is the first oral medication approved to treat this disease by the US Food and Drug Administration (FDA). [6] Risdiplam is a survival of motor neuron 2-directed RNA splicing modifier. [6] [5] [10]
Spinal muscular atrophy (SMA) is a rare neuromuscular disorder that results in the loss of motor neurons and progressive muscle wasting. [ 3 ] [ 4 ] [ 5 ] It is usually diagnosed in infancy or early childhood and if left untreated it is the most common genetic cause of infant death. [ 6 ]
This is a shortened version of the twelfth chapter of the ICD-9: Diseases of the Skin and Subcutaneous Tissue. It covers ICD codes 680 to 709. The full chapter can be found on pages 379 to 393 of Volume 1, which contains all (sub)categories of the ICD-9. Volume 2 is an alphabetical index of Volume 1.
Spinal and bulbar muscular atrophy (SBMA), popularly known as Kennedy's disease, is a rare, adult-onset, X-linked recessive lower motor neuron disease caused by trinucleotide CAG repeat expansions in exon 1 of the androgen receptor (AR) gene, which results in both loss of AR function and toxic gain of function.
The importance of correctly recognizing progressive muscular atrophy as opposed to ALS is important for several reasons. The prognosis is a little better. A recent study found the 5-year survival rate in PMA to be 33% (vs 20% in ALS) and the 10-year survival rate to be 12% (vs 6% in ALS).
Spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), sometimes called Jankovic–Rivera syndrome, is a very rare neurodegenerative disease whose symptoms include slowly progressive muscle loss (), predominantly affecting proximal muscles, combined with denervation and myoclonic seizures. [1]
Periodic treatment using intravenous immunoglobulin can also improve recovery. Other immunosuppressive agents used to treat the inflammation associated with dermatomyositis include cyclosporine A, cyclophosphamide, and tacrolimus. [26] Physical therapy is usually recommended to prevent muscle atrophy and to regain muscle strength and range of ...
Hirayama disease, also known as monomelic amyotrophy (MMA), [1] [2] is a rare motor neuron disease first described in 1959 in Japan. Its symptoms usually appear about two years after adolescent growth spurt and is significantly more common in males, with an average age of onset between 15 and 25 years.