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

• Familial Dyskinesia and Facial Myokymia (FDFM)
• Familial Dyskinesia with Facial Myokymia
• FDFM (Familial Dyskinesia and Facial Myokymia)

What is ADCY5-Related Dyskinesia? (Definition/Background Information)

• ADCY5-Related Dyskinesia is a movement disorder that is characterized by several different types of involuntary movements
• As the name suggests, ADCY5-Related Dyskinesia is caused by changes (mutations) in the ADCY5 gene. It is inherited in an autosomal dominant manner
• Affected people generally develop sudden jerks, twitches, tremors, muscle tensing, and/or writhing movements between infancy and late adolescence. These abnormal movements are often continuous during waking hours and may persist during sleep, resulting in disrupted sleep cycles
• The arms, legs, neck and face are most commonly involved. Hypotonia and delayed motor milestones (i.e. crawling, walking) may also be present in more severely affected infants
• Treatment is based on the signs and symptoms present in each person and may include medications, physical therapy, and occupational therapy

(Source: ADCY5-Related Dyskinesia; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

Who gets ADCY5-Related Dyskinesia? (Age and Sex Distribution)

• ADCY5-Related Dyskinesia is a rare congenital disorder. The prevalence of this disorder is not known
• The presentation of symptoms may occur any time between infancy and late adolescence
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for ADCY5-Related Dyskinesia? (Predisposing Factors)

• A positive family history may be an important risk factor, since ADCY5-Related Dyskinesia can be inherited
• Currently, no other risk factors have been clearly identified for the disorder

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 ADCY5-Related Dyskinesia? (Etiology)

• ADCY5-Related Dyskinesia is caused by mutation(s) in the ADCY5 gene, which codes for the enzyme adenylate cyclase 5
• The emzyme catalyzes a reaction leading to the formation of cyclic adenosine monophosphate or cAMP, which is involved in a mutitude of cellular signaling pathways
• The disorder 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 ADCY5-Related Dyskinesia?

The signs and symptoms of ADCY5-Related Dyskinesia may vary among affected individuals in type and severity. Based on the frequency of symptoms observed, the following information may be noted:

Very frequently present symptoms in 80-99% of the cases:

• Congestive heart failure
• Dilated cardiomyopathy
• Hyperreflexia

Frequently present symptoms in 30-79% of the cases:

• Motor delay
• Muscular hypotonia of the trunk
• Resting tremor

Occasionally present symptoms in 5-29% of the cases:

• Anxiety
• Chorea
• Dyskinesia

In addition to the above, the following signs and symptoms may also be present in some affected individuals:

• Facial myokymia
• Limb hypertonia

(Source: ADCY5-Related Dyskinesia; Genetic and Rare Disease Information Center (GARD) of National Center for Advancing Translational Science (NCATS), USA.)

How is ADCY5-Related Dyskinesia Diagnosed?

ADCY5-Related Dyskinesia 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 ADCY5-Related Dyskinesia?

The complications of ADCY5-Related Dyskinesia may include:

• Delay in reaching developmental milestones
• Clumsiness
• Progression of the disorder, leading to severe symptoms that last longer
• Stress and anxiety, which can further exacerbate the symptoms
• Low self-esteem

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

How is ADCY5-Related Dyskinesia Treated?

There is no cure for AADCY5-Related Dyskinesia, since it is a genetic condition. The treatment is usually given to manage the signs and symptoms and any complication that develops.

How can ADCY5-Related Dyskinesia be Prevented?

ADCY5-Related Dyskinesia 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 ADCY5-Related Dyskinesia? (Outcomes/Resolutions) 

• The prognosis of ADCY5-Related Dyskinesia 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
• The intelligence and life expectancy of affected individuals are reported to be normal

Additional and Relevant Useful Information for ADCY5-Related Dyskinesia:

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

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