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Cerebellar ataxia with neuropathy and vestibular areflexia syndrome (CANVAS) is an autosomal recessive late-onset heredodegenerative multisystem neurological disease. The symptoms include poor balance and difficulty walking. Chronic cough and difficulty swallowing may also be present.
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Machado–Joseph disease (MJD), also known as Machado–Joseph Azorean disease, Machado's disease, Joseph's disease or spinocerebellar ataxia type 3 (SCA3), is a rare autosomal dominantly inherited neurodegenerative disease that causes progressive cerebellar ataxia, [1] [2] which results in a lack of muscle control and coordination of the upper and lower extremities. [3]
MSA was first described in 1960 by Milton Shy and Glen Drager and was then known as Shy–Drager syndrome. [ 2 ] Many people affected by MSA experience dysfunction of the autonomic nervous system , which commonly manifests as orthostatic hypotension , impotence , loss of sweating , dry mouth and urinary retention and incontinence .
CAPOS syndrome is a rare genetic neurological disorder which is characterized by abnormalities of the feet, eyes and brain which affect their normal function. These symptoms occur episodically when a fever-related infection is present within the body.
Symptoms of sensory neuropathy may sometimes precede the cancer diagnosis by several months. Immune mediated sensory neuronopathy is commonly associated with Sjogrens syndrome . [ 5 ] Sjogren's is most commonly affected by a length dependent axonal sensorimotor neuropathy characterized by symptoms in the extremities.
The diagnosis of neonatal/infantile Canavan disease relies on the demonstration of a very high concentration of N-acetylaspartic acid (NAA) in the urine. In mild/juvenile Canavan disease, NAA may only be slightly elevated; thus, the diagnosis relies on molecular genetic testing of ASPA , the gene encoding the enzyme aspartoacylase.
Vertebrobasilar insufficiency (VBI) describes a temporary set of symptoms due to decreased blood flow in the posterior circulation of the brain.The posterior circulation supplies the medulla, pons, midbrain, cerebellum and (in 70-80% of people) supplies the posterior cerebellar artery to the thalamus and occipital cortex. [1]