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Rasmussen syndrome or Rasmussen's encephalitis is a rare inflammatory neurological disease, characterized by frequent and severe seizures, loss of motor skills and speech, hemiparesis (weakness on one side of the body), encephalitis (inflammation of the brain), and dementia.
Bobble-head doll syndrome is a rare neurological movement disorder in which patients, usually children around age 3, begin to bob their head and shoulders forward and back, or sometimes side-to-side, involuntarily, in a manner reminiscent of a bobblehead doll.
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.
Alexander disease is a very rare autosomal dominant leukodystrophy, which are neurological conditions caused by anomalies in the myelin which protects nerve fibers in the brain. The most common type is the infantile form that usually begins during the first two years of life.
It belongs to a group of genetic disorders known as leukodystrophies, [1] where the growth and maintenance of myelin sheath in the central nervous system (CNS) are impaired. [2] There are three types of spongy degeneration: infantile, congenital and juvenile, with juvenile being the most severe type. [ 3 ]
[4] [6] Almost 1/3 of people with this disorder had episodic ocular motor features within 1–2 days of birth. Many also experienced hemiplegia and dystonia before 3 months of age. [ 4 ] A final symptom that may be considered paroxysmal is a temporary change in behavior - some patients will become unreasonable, demanding, and aggressive either ...
Brown-Vialetto-Van-Laere syndrome (BVVL), is a rare, progressive, inherited neurodegenerative disorder that most often manifests in infancy or early childhood.Since 2010, mutations in the SLC52A1, SLC52A2, or SLC52A3 genes, which encode riboflavin transporters, have been identified as the cause of BVVL.
This is a list of major and frequently observed neurological disorders (e.g., Alzheimer's disease), symptoms (e.g., back pain), signs (e.g., aphasia) and syndromes (e.g., Aicardi syndrome). There is disagreement over the definitions and criteria used to delineate various disorders and whether some of these conditions should be classified as ...