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Aniridia Cerebellar Ataxia Mental Deficiency (ACAMD)

Last updated April 30, 2018

Approved by: Maulik P. Purohit MD, MPH

Aniridia Cerebellar Ataxia Mental Deficiency (ACAMD), also referred to as Gillespie Syndrome, is an extremely rare inherited disorder. This disorder was first identified in 1965 and since then, there have only been 21 reported cases.


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

  • ACAMD (Aniridia Cerebellar Ataxia Mental Deficiency)
  • Aniridia, Partial-Cerebellar Ataxia-Mental Retardation
  • Aniridia, Partial-Cerebellar Ataxia-Oligophrenia

What is Aniridia Cerebellar Ataxia Mental Deficiency? (Definition/Background Information)

  • Aniridia Cerebellar Ataxia Mental Deficiency (ACAMD), also referred to as Gillespie Syndrome, is an extremely rare inherited disorder. This disorder was first identified in 1965 and since then, there have only been 21 reported cases
  • ACAMD is characterized by the poor development of the cerebellum and partial or entire absence of the iris in the eyes
  • The cerebellum is a brain structure responsible for the coordination of voluntary muscle movements, maintenance of posture, and regulation of balance
  • The iris is the colored portion of the eye. When the iris is completely absent, it is referred to as aniridia and when part of the iris is missing, it is called partial aniridia. ACAMD disorder usually affects both the eyes, but a few cases have shown only one eye to be affected
  • Presently, there is no cure available for Aniridia Cerebellar Ataxia Mental Deficiency. The goal of treatment is to manage symptoms and improve one’s mental functioning
  • Currently, there are no specific measures available to prevent Aniridia Cerebellar Ataxia Mental Deficiency genetic condition. An early diagnosis of ACAMD is important so that maximum mental capacity can be retained

Who gets Aniridia Cerebellar Ataxia Mental Deficiency? (Age and Sex Distribution)

  • Aniridia Cerebellar Ataxia Mental Deficiency is an inherited and extremely rare genetic disorder
  • In the small number of cases known, females are affected more than males
  • One report suggests that individuals with this syndrome make up for about 2% of all patients with aniridia

What are the Risk Factors for Aniridia Cerebellar Ataxia Mental Deficiency? (Predisposing Factors)

Aniridia Cerebellar Ataxia Mental Deficiency is a genetic disorder. The only risk factor associated with ACAMD is a family history of 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 ones 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 Aniridia Cerebellar Ataxia Mental Deficiency? (Etiology)

Researchers are yet to ascertain the exact cause of Aniridia Cerebellar Ataxia Mental Deficiency. Currently, the genetics of the disorder are not known in detail.

  • The disorder is thought to be an inherited autosomal recessive genetic trait. However, some case studies have shown that it may be an autosomal dominant trait
  • A recessive trait means both genes (one from each parent) have to be mutated to get this disorder. A dominant trait means that only mutation of one gene (from any parent) can cause this disorder

What are the Signs and Symptoms of Aniridia Cerebellar Ataxia Mental Deficiency?

Signs and symptoms of Aniridia Cerebellar Ataxia Mental Deficiency include:

  • Impaired coordination of voluntary movements, delayed coordination skills
  • Inability to speak and/or write clearly
  • Mental retardation
  • Non-responsive pupils, very large pupils
  • Droopy eyelids, wobbly eyes
  • Weak or underdeveloped muscles
  • The individual may appear clumsy
  • Inability to walk unaided

How is Aniridia Cerebellar Ataxia Mental Deficiency Diagnosed?

Aniridia Cerebellar Ataxia Mental Deficiency may be suspected at birth, if pupils are dilated and fixed in a hypotonic (limp) newborn. The diagnostic strategies for ACAMD may include:

  • Detailed patient and family history
  • Slit lamp examination of the eyes
  • Measurements of certain angles in the eye using a gonioscope
  • CT scan of the brain
  • MRI scan of the brain

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 Aniridia Cerebellar Ataxia Mental Deficiency?

Complications associated with Aniridia Cerebellar Ataxia Mental Deficiency include:

  • Vision defects
  • Impaired learning, writing, and speech
  • Impaired physical functioning

How is Aniridia Cerebellar Ataxia Mental Deficiency Treated?

  • Aniridia Cerebellar Ataxia Mental Deficiency treatment plans will vary depending on the specific signs and symptoms observed
  • Since there is no cure for the condition, the treatment goals include symptomatic management and measures to improve mental functioning

The treatment plans may include:

  • Physical therapy
  • Special education programs
  • Genetic counselling of future (expectant) parents with a positive family history of ACAMD

How can Aniridia Cerebellar Ataxia Mental Deficiency be Prevented?

  • Currently, there are no specific methods or guidelines to prevent Aniridia Cerebellar Ataxia Mental Deficiency, 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

What is the Prognosis of Aniridia Cerebellar Ataxia Mental Deficiency? (Outcomes/Resolutions)

  • Early diagnosis and treatment of Aniridia Cerebellar Ataxia Mental Deficiency is important in order to achieve maximum mental functioning and mental capacity
  • Presently, ACAMD has no cure and the affected individual will require lifelong assistance

Additional and Relevant Useful Information for Aniridia Cerebellar Ataxia Mental Deficiency:

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

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

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Reviewed and Approved by a member of the DoveMed Editorial Board
First uploaded: May 28, 2015
Last updated: April 30, 2018