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1 in 10,000 people [2] 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 ...
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 ...
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]
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.
Classification. ALS is a motor neuron disease, which is a group of neurological disorders that selectively affect motor neurons, the cells that control voluntary muscles of the body. [3] Other motor neuron diseases include primary lateral sclerosis (PLS), progressive muscular atrophy (PMA), progressive bulbar palsy, pseudobulbar palsy, and ...
Progressive muscular atrophy (PMA), also called Duchenne–Aran disease and Duchenne–Aran muscular atrophy, is a disorder characterised by the degeneration of lower motor neurons, resulting in generalised, progressive loss of muscle function. PMA is classified among motor neuron diseases (MND) where it is thought to account for around 4% of ...
Hirayama disease. 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.
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 ...
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