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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.
[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 ...
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]
Cerebellar ataxia is a form of ataxia originating in the cerebellum. [1] Non-progressive congenital ataxia (NPCA) is a classical presentation of cerebral ataxias.. Cerebellar ataxia can occur as a result of many diseases and may present with symptoms of an inability to coordinate balance, gait, extremity and eye movements. [2]
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A case report form (or CRF) is a paper or electronic questionnaire specifically used in clinical trial research. [1] The case report form is the tool used by the sponsor of the clinical trial to collect data from each participating patient.
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]
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.