Disease Information for Olivopontocerebellar degeneration

A group of inherited and sporadic disorders which share progressive ataxia in combination with atrophy of the CEREBELLUM; PONS; and inferior olivary nuclei; Additional clinical features may include MUSCLE RIGIDITY; NYSTAGMUS; RETINAL DEGENERATION; MUSCLE SPASTICITY; DEMENTIA; URINARY INCONTINENCE; and OPHTHALMOPLEGIA; The familial form has an earlier onset (second decade) and may feature spinal cord atrophy; The sporadic form tends to present in the fifth or sixth decade, and is considered a clinical subtype of MULTIPLE SYSTEM ATROPHY; (From Adams et al, Principles of Neurology, 6th ed, )----------------------------------------------Multiple System Atrophy; MSA; Progressive Autonomic Failure with Multiple System Atrophy; Shy-Drager Syndrome; (SDS); Sporadic OPCA; Sporadic Olivopontocerebellar Atrophy; Striatonigral Degeneration (SND); Multiple system atrophy (MSA) is a rare progressive neurological disorder characterized by a varying combination of symptoms; Affected individuals may experience symptoms similar to those found in Parkinson’s disease (parkinsonism); cerebellar signs such as progressive impairment of the ability to coordinate voluntary movements (cerebellar ataxia); and impaired functioning of the portion of the nervous system (autonomic nervous system) that regulates certain involuntary body functions (autonomic failure) such as heart rate, blood pressure, sweating, and bowel and bladder control; The exact cause of multiple system atrophy is unknown; The term multiple system atrophy has generated significant controversy and confusion in the medical literature; The term now encompasses three conditions once thought to be separate disorders, specifically Shy-Drager syndrome, striatonigral degeneration, and sporadic olivopontocerebellar atrophy; Additionally, there is a hereditary form of olivopontocerebellar atrophy that is not part of the multiple system atrophy spectrum; [NORD]-----------------------------------------Olivopontocerebellar Atrophy, Hereditary; Hereditary OPCA; Subdivisions: OPCA with dementia and extrapyramidal signs: OPCA with retinal degeneration; OPCA, Fickler-Winkler type; OPCA, Holguin type; OPCA, Menzel type; OPCA, Schut-Haymaker type

OPCA1; OPCA2; OPCA3; OPCA4; OPCA5;[ DDX: SCA, Cuban type; SCA1,SCA2, SCA7, Spinocerebellar Ataxia 1, Spinocerebellar Ataxia 2, Spinocerebellar Ataxia 7}; Hereditary olivopontocerebellar atrophy (OPCA) is a rare group of disorders characterized by progressive balance problems (disequilibrium), progressive impairment of the ability to coordinate voluntary movements (cerebellar ataxia), and difficulty speaking or slurred speech (dysarthria); [NORD2005]

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