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

• ADCA (Autosomal Dominant Cerebellar Ataxia)
• Episodic Ataxia
• Spinocerebellar Ataxia

What is Autosomal Dominant Cerebellar Ataxia? (Definition/Background Information)

• Autosomal Dominant Cerebellar Ataxia (ADCA) is one of the genetic subtypes of hereditary ataxia 
• Although the signs and symptoms vary depending on the specific type, the most common symptom of ADCA is poor movement coordination (ataxia) especially a jerky, unsteady walking style (gait)
• Coordination of hands and clearness of speech (dysarthria) are also affected. The area of the brain controlling balance and movement decreases in size (cerebellar atrophy)
• While the age of onset can vary, the symptoms most commonly begin during adult years. The ataxia usually slowly worsens over time
• Autosomal Dominant Cerebellar Ataxia include the following types:
• Autosomal Dominant Spinocerebellar Ataxias (SCAs) 
• Episodic Ataxias (EAs) 
• Dominant type of Spastic Ataxia (SPAX1)
• Mutations or changes in many different genes are known to cause many of the different types of ADCA, but more genes are still being discovered. Inheritance is autosomal dominant
• Diagnosis of ADCA is based on clinical history, physical examination, genetic testing, and ruling out other diseases
• While there is still no cure, treatment options for specific symptoms may be available, depending on the type and severity of symptoms. Management of ACDA may involve several specialists

(Source: Autosomal Dominant Cerebellar Ataxia; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Autosomal Dominant Cerebellar Ataxia? (Age and Sex Distribution)

• Autosomal Dominant Cerebellar Ataxia is a rare disorder. The presentation of symptoms typically occurs in adulthood
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Autosomal Dominant Cerebellar Ataxia? (Predisposing Factors)

• A positive family history may be an important risk factor, since Autosomal Dominant Cerebellar Ataxia can be inherited
• Currently, no other risk factors have been clearly identified for the condition

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 Autosomal Dominant Cerebellar Ataxia? (Etiology)

• Autosomal Dominant Cerebellar Ataxia can be caused by mutation(s) in several genes
• Some of the genes causing ADCA when mutated are ATN1, ATXN1, ATXN2, ATXN3, ATXN7, ATXN8, ATXN10, CACNA1A, DMNT1, ITPR1, KCNC3, PPP2R2B, PRKCG, SCA16, SCA25, SPTBN2, TBP, TTBK2, among many others
• ADCA is inherited in an autosomal dominant manner

Autosomal dominant: Autosomal dominant conditions are traits or disorders that are present when only one copy of the mutation is inherited on a non-sex chromosome. In these types of conditions, the individual has one normal copy and one mutant copy of the gene. The abnormal gene dominates, masking the effects of the correctly function gene. If an individual has an autosomal dominant condition, the chance of passing the abnormal gene on to their offspring is 50%. Children, who do not inherit the abnormal gene, will not develop the condition or pass it on to their offspring.

What are the Signs and Symptoms of Autosomal Dominant Cerebellar Ataxia?

The signs and symptoms of Autosomal Dominant Cerebellar Ataxia may vary among affected individuals, depending on the type or subtype of ataxia, and include:

• Impaired coordination in movement
• Jerky movements
• Awkward gait
• Tremors
• Rapid eye movements
• Abnormal vertical movements of eyes
• Involuntary movements
• Migraine
• Narcolepsy
• Low muscle tone
• Loss of sensation
• Learning deficits
• Mild mental retardation
• Sensorineural hearing impairment
• Blurring of vision
• Vertigo
• Seizures

How is Autosomal Dominant Cerebellar Ataxia Diagnosed?

Autosomal Dominant Cerebellar Ataxia is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

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 Autosomal Dominant Cerebellar Ataxia?

The complications of Autosomal Dominant Cerebellar Ataxia may include:

• Hearing loss
• Impaired vision
• Difficulty with normal movement
• Clumsiness leading to low self-esteem
• Difficulties in conducting day-to-day activities
• Risk of falls and injury due to seizures

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Autosomal Dominant Cerebellar Ataxia Treated?

There is no cure for Autosomal Dominant Cerebellar Ataxia, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops

How can Autosomal Dominant Cerebellar Ataxia be Prevented?

Autosomal Dominant Cerebellar Ataxia may not be preventable, since it is a genetic disorder.

• 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
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Autosomal Dominant Cerebellar Ataxia? (Outcomes/Resolutions)

• The prognosis of Autosomal Dominant Cerebellar Ataxia is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Autosomal Dominant Cerebellar Ataxia:

• Autosomal Dominant Cerebellar Ataxia was formerly known as Pierre Marie Cerebellar Ataxia

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/