Hereditary OPCA affects approximately 10,000 people in the United States, with males affected approximately twice as often as females.
The average age of onset is 28 years.
Hereditary OPCA, also called inherited OPCA and familial OPCA, is caused by inheritance of a defective gene, which is recognized in some forms but not in others.
Olivopontocerebellar atrophy primarily affects the cerebellum, pons, and inferior olivary nuclei in the brain. These regions are responsible for coordinating movement and balance, and damage to them can result in symptoms like ataxia, speech problems, and cognitive impairment.
The most common early symptom of OPCA is ataxia, or incoordination, which may be observed in an unsteady gait or over-reaching for an object with the hand.
Yes
common symptoms include dysarthria (speech difficulty), dysphagia (swallowing difficulty), nystagmus (eye tremor), and abnormal movements such as jerking, twisting, or writhing. Symptoms worsen over time.
hereditary OPCA is caused by the inheritance of a defective gene. Several genes have been identified. The two most common are known as SCA-1 and SCA-2 (SCA stands for spinocerebellar ataxia ).
363.50 = Hereditary choroidal dystrophy or atrophy, unspecified A more appropriate code may be 377.1 = Optic atrophy
The life expectancy after diagnosis is approximately 15 years, although this is an average and cannot be used to predict the lifespan of any individual person.
An initial diagnosis of OPCA can be made with a careful neurological examination (testing of reflexes, balance, coordination, etc.), plus a magnetic resonance image (MRI ) of the brain
The most common form of spinal muscular atrophy is childhood proximal SMA.
Spinal muscular atrophy is an autosomal recessive disease. The severity of spinal muscular atrophy varies, and is the most common genetic cause of infant death.