ADCY5-related dyskinesia

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What is ADCY5-related dyskinesia?

ADCY5-related dyskinesia is a movement disorder; the term "dyskinesia" refers to abnormal involuntary movements. The abnormal movements that occur in ADCY5-related dyskinesia typically appear as sudden (paroxysmal) jerks, twitches, tremors, muscle tensing (dystonia), or writhing (choreiform) movements, and can affect the limbs, neck, and face.

The abnormal movements associated with ADCY5-related dyskinesia usually begin between infancy and late adolescence. They can occur continually during waking hours and in some cases also during sleep. Severely affected infants may experience weak muscle tone (hypotonia) and delay in development of motor skills such as crawling and walking; these individuals may have difficulties with activities of daily living and may eventually require a wheelchair. In more mildly affected individuals, the condition has little impact on walking and other motor skills, although the abnormal movements can lead to clumsiness or difficulty with social acceptance in school or other situations.

In some people with ADCY5-related dyskinesia, the disorder is generally stable throughout their lifetime. In others, it slowly gets worse (progresses) in both frequency and severity before stabilizing or even improving in middle age. Anxiety, fatigue, and other stress can temporarily increase the severity of the signs and symptoms of ADCY5-related dyskinesia, while some affected individuals may experience remission periods of days or weeks without abnormal movements. Life expectancy and intelligence are unaffected by this disorder.

How common is ADCY5-related dyskinesia?

The prevalence of ADCY5-related dyskinesia is unknown. Only a few affected individuals and families have been described in the medical literature.

What genes are related to ADCY5-related dyskinesia?

As its name suggests, ADCY5-related dyskinesia is caused by mutations in the ADCY5 gene. This gene provides instructions for making an enzyme called adenylate cyclase 5. This enzyme helps convert a molecule called adenosine triphosphate (ATP) to another molecule called cyclic adenosine monophosphate (cAMP). ATP is a molecule that supplies energy for cells' activities, including muscle contraction, and cAMP is involved in signaling for many cellular functions. Some ADCY5 gene mutations that cause ADCY5-related dyskinesia are thought to increase adenylate cyclase 5 enzyme activity and the level of cAMP within cells. Others prevent production of adenylate cyclase 5. It is unclear how either type of mutation leads to the abnormal movements that occur in this disorder.

How do people inherit ADCY5-related dyskinesia?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder.

In some cases, an affected person inherits the mutation from one affected parent. Other cases result from new mutations in the gene and occur in people with no history of the disorder in their family.

Where can I find information about diagnosis or management of ADCY5-related dyskinesia?

These resources address the diagnosis or management of ADCY5-related dyskinesia and may include treatment providers.

You might also find information on the diagnosis or management of ADCY5-related dyskinesia inEducational resources and Patient support.

General information about the diagnosis and management of genetic conditions is available in the Handbook. Read more about genetic testing, particularly the difference between clinical tests and research tests.

To locate a healthcare provider, see How can I find a genetics professional in my area? in the Handbook.

Where can I find additional information about ADCY5-related dyskinesia?

You may find the following resources about ADCY5-related dyskinesia helpful. These materials are written for the general public.

MedlinePlus - Health information (2 links)
Educational resources - Information pages (2 links)
Patient support - For patients and families
Dystonia Medical Research Foundation: Paroxysmal Dyskinesias

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

Gene Reviews - Clinical summary
Genetic Testing Registry - Repository of genetic test information (1 link)
PubMed - Recent literature
OMIM - Genetic disorder catalog

What other names do people use for ADCY5-related dyskinesia?

familial dyskinesia with facial myokymia
FDFM

For more information about naming genetic conditions, see the Genetics Home Reference Condition Naming Guidelines and How are genetic conditions and genes named? in the Handbook.

What if I still have specific questions about ADCY5-related dyskinesia?

Ask the Genetic and Rare Diseases Information Center

Where can I find general information about genetic conditions?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding ADCY5-related dyskinesia?

adenosine triphosphate ; anxiety ; ATP ; autosomal ; autosomal dominant ; cell ; contraction ;dyskinesia ; dystonia ; enzyme ; familial ; gene ; hypotonia ; inherited ; involuntary ; molecule ;motor ; muscle tone ; mutation ; prevalence ; remission ; stress

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (5 links)

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook