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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.
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]
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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]
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.
Cerebellar cognitive affective syndrome (CCAS), also called Schmahmann's syndrome [1] is a condition that follows from lesions (damage) to the cerebellum of the brain. It refers to a constellation of deficits in the cognitive domains of executive function , spatial cognition , language , and affect resulting from damage to the cerebellum.
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.
Life expectancy for type A is approximately 10 to 20 years. These symptoms are seen in CS type 1 children. Cockayne syndrome type B (CSB), also known as "cerebro-oculo-facio-skeletal (COFS) syndrome" (or "Pena-Shokeir syndrome type B"), is the most severe subtype. Symptoms are present at birth and normal brain development stops after birth.