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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] It may also appear later in life and then have a milder course of ...
Spinal muscular atrophies. Spinal muscular atrophies (SMAs) are a genetically and clinically heterogeneous group of rare debilitating disorders characterised by the degeneration of lower motor neurons (neuronal cells situated in the anterior horn of the spinal cord) and subsequent atrophy (wasting) of various muscle groups in the body. [1]
Motor neuron diseases affect both children and adults. [5] While each motor neuron disease affects patients differently, they all cause movement-related symptoms, mainly muscle weakness . [ 6 ] Most of these diseases seem to occur randomly without known causes, but some forms are inherited. [ 2 ]
Neurology. 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. The condition is caused by a genetic mutation in the ...
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.
Unlike types 0, 1, and 2, those with type 3 do not have to worry about comprehension and learning. Lastly, SMA type 4 is diagnosed to elderly individuals, and is the most uncommon version of SMA next to type 0. SMA type 4 is the least severe, and is sort of similar to type 3, but most common in adults. [3]
Specialty. Neurology. X-linked spinal muscular atrophy type 2 (SMAX2, XLSMA), also known as arthrogryposis multiplex congenita X-linked type 1 (AMCX1), is a rare neurological disorder involving death of motor neurons in the anterior horn of spinal cord resulting in generalised muscle wasting ( atrophy ). The disease is caused by a mutation in ...
Jokela type spinal muscular atrophy ( SMAJ ), also known as late-onset spinal motor neuronopathy ( LOSMoN ), is an ultra-rare neuromuscular disorder characterized by muscle twitches and cramps. [1] The symptoms appear in adulthood and gradually progress. The disease is caused by a mutation in the CHCHD10 gene [2] and is inherited in an ...
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