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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]
A cramp is a sudden, involuntary, painful skeletal muscle contraction of skeletal muscle, and common in motor neuron disorders. Bulbar symptoms (weakness of the facial and tongue muscles) typically follow limb manifestations and may start with difficulty with speech articulation (dysarthria) before swallowing difficulty (dysphagia). [ 3 ][ 5 ...
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 ...
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 ...
Distal hereditary motor neuronopathies (distal HMN, dHMN), sometimes also called distal hereditary motor neuropathies, are a genetically and clinically heterogeneous group of motor neuron diseases that result from genetic mutations in various genes and are characterized by degeneration and loss of motor neuron cells in the anterior horn of the spinal cord and subsequent muscle atrophy.
Nusinersen, [7] marketed as Spinraza, [4] is a medication used in treating spinal muscular atrophy (SMA), a rare neuromuscular disorder. [8][4] In December 2016, it became the first approved drug used in treating this disorder. Since the condition it treats is so rare, Nusinersen has so-called "orphan drug" designation in the United States and ...
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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