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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 ]
Autosomal recessive proximal spinal muscular atrophy, responsible for 90-95% of cases and usually called simply spinal muscular atrophy (SMA) – a disorder associated with a genetic mutation on the SMN1 gene on chromosome 5q (locus 5q13), diagnosed predominantly in young children and in its most severe form being the most common genetic cause ...
Molecular look into spinal muscular atrophy. Molecular genetic testing is the tool used to assess SMA. However, this test might not be needed if signs such as hypotonia are present. MRI scans and muscle biopsies used to be the standard testing method, but molecular testing is much more efficient.
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.
Spinal muscular atrophy with lower extremity predominance 2B; Other names: Lower extremity-predominant spinal muscular atrophy type 2B, SMALED2B: Spinal muscular atrophy with lower extremity predominance 2B is inherited in an autosomal dominant manner. Specialty: Neurology: Symptoms: Generalised severe hypotonia at birth: Usual onset: Infancy ...
The drug is used to treat spinal muscular atrophy associated with a mutation in the SMN1 gene. It is administered directly to the central nervous system (CNS) using intrathecal injection. [4] In clinical trials, the drug halted the disease progression. In around 60% of infants affected by type 1 spinal muscular atrophy, it improves motor ...
Spinal muscular atrophy with lower extremity predominance 1; Other names: Lower extremity predominant spinal muscular atrophy type 1, SMALED1: Spinal muscular atrophy with lower extremity predominance is inherited in an autosomal dominant manner. Specialty: Neurology: Symptoms: Progressive muscle atrophy in legs: Usual onset: Infancy: Causes ...
Distal spinal muscular atrophy type 1 (DSMA1), also known as spinal muscular atrophy with respiratory distress type 1 (SMARD1), is a rare neuromuscular disorder involving death of motor neurons in the spinal cord which leads to a generalised progressive atrophy of body muscles.
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