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Hereditary Olivopontocerebellar Atrophy

Last updated Sept. 26, 2018

Approved by: Krish Tangella MD, MBA, FCAP

Olivopontocerebellar Atrophy (OPCA) is a group of neurodegenerative disorders that causes the cerebellum, pons, inferior olivae, and other parts of the brain to deteriorate. Hereditary Olivopontocerebellar Atrophy can be caused by the inheritance of autosomal dominant, autosomal recessive, or X linked recessive genes.


What are the other Names for this Condition? (Also known as/Synonyms)

  • Hereditary OPA
  • Hereditary OPCA
  • Olivopontocerebellar Degeneration

What is Hereditary Olivopontocerebellar Atrophy? (Definition/Background Information)

  • Olivopontocerebellar Atrophy (OPCA) is a group of neurodegenerative disorders that causes the cerebellum, pons, inferior olivae, and other parts of the brain to deteriorate
    • The cerebellum is responsible for maintaining balance and coordinating voluntary movement
    • The pons is responsible for coordinating nerve signals between structures of the brain
    • The inferior olivae is involved with balance, coordination, and motor activity
  • As these structures begin to deteriorate, signs and symptoms, such as ataxia (loss of control of bodily movement), balance issues, and neuropathy (nerve damage) occur. OPCA is a progressive disorder and the signs and symptoms get worse over time
  • Hereditary Olivopontocerebellar Atrophy can be caused by the inheritance of autosomal dominant, autosomal recessive, or X linked recessive genes. Since it is a genetic condition, a family history of Hereditary OPCA increases the risk for an individual to be affected
  • Generally, men are more likely to be affected by Hereditary Olivopontocerebellar Atrophy than women; the disorder usually begins to present itself in the late 20s
  • A healthcare provider can diagnose the condition through a physical exam, along with an analysis of previous medical history. Upon diagnosis, the treatment options are symptomatic, as there is no cure for Hereditary Olivopontocerebellar Atrophy
  • Additionally, treatment is used to help prevent complications, such as choking, infection of the lungs from inhaling food, and physical injuries. Treatment can include medications for specific symptoms, therapy to help with speech and balance, and use of walking aids
  • The prognosis for Hereditary Olivopontocerebellar Atrophy is generally poor as the central nervous system deterioration leads to severe disability; the condition is often fatal

Who gets Hereditary Olivopontocerebellar Atrophy? (Age and Sex Distribution)

  • Hereditary Olivopontocerebellar Atrophy begins to show signs and symptoms during the late 20’s, for a majority of individuals. However, a wide age range of presentation is observed
  • Males and females of different races and ethnic backgrounds can be affected, but research has shown that males have a higher prevalence of the inherited disease
  • The prevalence of Hereditary OPCA is about 3 cases per 100,000 population, making it a rare disorder

What are the Risk Factors of Hereditary Olivopontocerebellar Atrophy? (Predisposing Factors)

  • Hereditary Olivopontocerebellar Atrophy is a genetic condition, and hence, a family history of the condition increases the risk
  • In case of sporadic OPCA, certain environmental conditions or exposure to chemicals due to an industrial setting can be risk factors

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one's chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Hereditary Olivopontocerebellar Atrophy? (Etiology)

Hereditary Olivopontocerebellar Atrophy is inherited in the following manner:

  • Autosomal dominant genes, when only one mutated gene is needed from a parent. A majority of the inheritance occur in this manner
  • Autosomal recessive genes, when a copy of the mutated gene is passed down from each parent to the child. This is seen with Fickler-Winkler type OPCA
  • X-linked recessive inheritance as seen with OPCA-X. With X-linked inheritance, usually women are not affected because the mutated X gene (recessive) is overwritten by the normal X gene (dominant). Males who receive the mutated X gene (recessive) are affected by the condition, because males only have one X chromosome (unlike females who have two X chromosomes)

Sporadic Olivopontocerebellar Atrophy:

  • Some cases are seen to occur without a preceding family history. In such cases, a sporadic or random mutation is spontaneously seen to occur. This is known as Sporadic Olivopontocerebellar Atrophy. The cause in such cases is unknown
  • Research scientists believe that the exposure to certain chemicals or other environmental factors may lead to sporadic forms of the disorder

Some experts believe that Olivopontocerebellar Atrophy is related to multiple system atrophy (MSA) and spinocerebellar ataxia (SCA), both neurological disorders, because of certain overlapping signs and symptoms.

What are the Signs and Symptoms of Hereditary Olivopontocerebellar Atrophy?

The signs and symptoms of Hereditary Olivopontocerebellar Atrophy vary from one individual to another; the severity of the symptoms and its deterioration also varies between individuals. There is also a wide age of onset of symptoms, though in many individuals the onset is during young adulthood.

The signs and symptoms of Hereditary OPCA can include the following:

  • Ataxia (loss of control of bodily movements) that progressively gets worse
  • Balance and speech problems
  • Abnormal eye movements
  • Bowel or bladder abnormalities
  • Difficulty swallowing and muscle spasms
  • Neuropathy (nerve damage)
  • Tremors (shaking of the hand or arm)
  • Cognitive decline

The signs and symptoms can overlap with Parkinson’s disease, which can make the diagnosis challenging.

How is Hereditary Olivopontocerebellar Atrophy Diagnosed?

Hereditary Olivopontocerebellar Atrophy can be diagnosed through:

  • Physical examination and analysis of previous medical history by a healthcare provider
  • Neurological examination
  • MRI scan of the brain to look for any deterioration
  • Electromyographic studies
  • Molecular genetic testing for known gene mutations that are associated with the condition

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Hereditary Olivopontocerebellar Atrophy?

Complications of Hereditary Olivopontocerebellar Atrophy can include:

  • Choking
  • Frequent infections
  • Aspiration pneumonia: Infection due to inhaling food into the lungs
  • Physical injury from falling
  • Nutritional deficit due to swallowing difficulties

How is Hereditary Olivopontocerebellar Atrophy Treated?

There is no cure for Hereditary Olivopontocerebellar Atrophy. The treatment provided is symptomatic and can include:

  • Tremor medications
  • Therapy for speech defects
  • Physical therapy and walking aids to help with balance and prevent falls
  • Occupational therapy
  • Teaching techniques to prevent choking

How can Hereditary Olivopontocerebellar Atrophy be Prevented?

  • Currently, there are no specific methods or guidelines to prevent Hereditary Olivopontocerebellar Atrophy, since it is a genetic condition
  • Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular testing of the fetus during pregnancy) may help in understanding the risks better during pregnancy
  • If there is a family history of the condition, then genetic counseling will help assess risks, before planning for a child
  • Active research is currently being performed to explore the possibilities for treatment and prevention of inherited and acquired genetic disorders such as Hereditary Olivopontocerebellar Atrophy
  • Regular medical screening at periodic intervals with tests, scans and physical examinations are mandatory

What is the Prognosis of Hereditary Olivopontocerebellar Atrophy? (Outcomes/Resolutions)

  • The prognosis for Hereditary Olivopontocerebellar Atrophy is generally poor, as the condition slowly gets worse with time and there is no cure
  • It can take years for the individual to become fully disabled, but it has been shown that death occurs approximately 20 years after onset of symptoms
  • In general, the outcome of OPCA depends upon the progression and severity of the signs and symptoms. Individuals with milder symptoms that show slower disease progression have better outcomes than those with rapidly progressing and severe symptoms

Additional and Useful Relevant Information for Hereditary Olivopontocerebellar Atrophy:

  • The genetic carrier testing blood test is performed when parents-to-be wish to assess their risk of passing on a genetic disorder to their children

The following link can help you understand the genetic carrier testing blood test:

http://www.dovemed.com/common-procedures/procedures-laboratory/genetic-carrier-testing-blood-test/

What are some Useful Resources for Additional Information?


References and Information Sources used for the Article:


Helpful Peer-Reviewed Medical Articles:


Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: Sept. 8, 2016
Last updated: Sept. 26, 2018