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Multiple system atrophy (MSA) is a rare neurodegenerative disorder [1] characterized by tremors, slow movement, muscle rigidity, postural instability (collectively known as parkinsonism), autonomic dysfunction and ataxia.
In multiple system atrophy, autonomic dysfunction appears earlier and is more severe, [39] and is accompanied by uncoordinated movements, while visual hallucinations and fluctuating cognition are less common than in DLB. [153] Urinary difficulty is one of the earliest symptoms with multiple system atrophy, and is often severe. [70]
[citation needed] A multinational clinical trial investigating N-Acetyl-L-Leucine for the treatment of a related inherited cerebellar ataxia, ataxia-telangiectasia, began in 2019. [ 42 ] IntraBio is also conducting parallel clinical trials with N-Acetyl-L-Leucine for the treatment of Niemann-Pick disease type C [ 43 ] and GM2 gangliosidosis ...
multiple system atrophy; Alzheimer's disease; ALS; semantic or logopenic variant primary progressive aphasia; structural lesion suggestive of focal cause; granulin mutation or reduced plasma progranulin levels; TDP-43 or fused in sarcoma (FUS) mutations [20] The diagnostic criteria for clinical use may result in a misdiagnosis of other tau ...
Upper motor neuron lesions occur in the brain or the spinal cord as the result of stroke, multiple sclerosis, traumatic brain injury, cerebral palsy, atypical parkinsonisms, multiple system atrophy, and amyotrophic lateral sclerosis.
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When a patient has multiple abnormalities (multiple anomaly, multiple deformity), they have a congenital abnormality that cannot be primarily identified with a single system of the body or single disease process. [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.