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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.
Symptoms and symptom onset vary; some individuals are diagnosed in childhood, others in adulthood, some report minor problems, whilst others experience severe discomfort and disability. In many cases, symptoms are mild enough to go unnoticed. The time period between episodes is known to vary between individuals.
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]
Since then many case studies have followed to understand the underlying conditions, symptoms and causes of the disease. The largest study of retrospective childhood ACA was done in 1994 by Connolly. This disease is still commonly used as a reference in clinical practice for other inflammatory and autoimmune disorders of the nervous system.
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.
Complex regional pain syndrome (CRPS Type 1 and Type 2), sometimes referred to by the hyponyms Reflex Sympathetic Dystrophy (RSD) or Reflex Neurovascular Dystrophy (RND), is a rare and severe form of neuroinflammatory and dysautonomic disorder causing chronic pain, neurovascular, and neuropathic symptoms.
Symptoms include “sensitivity to light, dizziness, pain behind the eyes, nausea, vomiting, and rash,” the CDC says, while more serious disease includes meningitis, encephalitis, and bleeding.
Symptoms of the most common (and most serious) form of Canavan disease typically appear in early infancy usually between the first three to six months of age. [4] Canavan disease then progresses rapidly from that stage, with typical cases involving intellectual disability, loss of previously acquired motor skills, feeding difficulties, abnormal muscle tone (i.e., initial floppiness ...