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Life expectancy 6–12 years after onset of symptoms: ... Multiple system atrophy (MSA) is a rare ... Certain signs and symptoms of MSA also occur with other ...
It occurs in approx. 5% of patients and usually manifests in the third or fourth decade of life. The symptoms consist of gradual weakening of leg muscles, which frequently makes it necessary for the patient to use walking aids. Other complications are rare and life expectancy is unaffected. 271150
The symptoms of an ataxia vary with the specific type and with the individual patient. Many subtypes of spinocerebellar ataxia result in cases where an individual retains full mental capacity but progressively loses physical control, but nearly half of the identified subtypes result in cognitive dysfunction, dementia, and mental retardation.
Additional Parkinson-plus syndromes include Pick's disease and olivopontocerebellar atrophy. [7] The latter is characterized by ataxia and dysarthria, and may occur either as an inherited disorder or as a variant of multiple system atrophy. MSA is also characterized by autonomic failure, formerly known as Shy–Drager syndrome. [8]
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.
This rare, potentially life-threatening syndrome is typically caused by an angle of 6–25° between the AA and the SMA, in comparison to the normal range of 38–56°, due to a lack of retroperitoneal and visceral fat (mesenteric fat). In addition, the aortomesenteric distance is 2–8 millimeters, as opposed to the typical 10–20. [1]
Marinesco–Sjögren-like syndrome is a very rare genetic disorder which is characterized by symptoms similar to those shown by people with Marinesco–Sjögren syndrome, the symptoms (of this variant of MSS) being infantile hypotonia, ataxia, cataracts, intellectual disabilities, cerebellar atrophy, myopathic alterations, vascular degeneration ...
Behr syndrome is characterized by the association of early-onset optic atrophy with spinocerebellar degeneration resulting in ataxia, pyramidal signs, peripheral neuropathy and developmental delay. [1] [2] Although it is an autosomal recessive disorder, heterozygotes may still manifest much attenuated symptoms. [3]
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