Aniridia cerebellar ataxia mental deficiency

Aniridia cerebellar ataxia mental deficiency (ACAMD) is a rare genetic disorder characterized by the absence of the colored part of the eye (the iris), problems with coordination and balance (cerebellar ataxia), and intellectual disability (mental deficiency).

Symptoms and Signs

The primary symptoms of ACAMD include aniridia, cerebellar ataxia, and mental deficiency. Aniridia is a condition in which the iris is partially or completely absent, leading to decreased vision and increased sensitivity to light. Cerebellar ataxia refers to a lack of muscle coordination that can make tasks such as walking or picking up objects difficult. Mental deficiency in ACAMD patients varies widely, from mild learning disabilities to severe intellectual impairment.

Causes

ACAMD is a genetic disorder, which means it is caused by abnormalities in a person's genes. It is inherited in an autosomal recessive manner, which means both parents must carry a copy of the mutated gene for a child to be affected.

Diagnosis

Diagnosis of ACAMD is based on clinical examination and genetic testing. The presence of aniridia, cerebellar ataxia, and mental deficiency, along with the results of genetic testing, can confirm the diagnosis.

Treatment

There is currently no cure for ACAMD. Treatment is symptomatic and supportive, focusing on managing the individual symptoms of the disorder. This may include physical therapy for ataxia, special education services for mental deficiency, and protective eyewear for aniridia.

Prognosis

The prognosis for individuals with ACAMD varies depending on the severity of the symptoms. With appropriate support and management, individuals with ACAMD can lead fulfilling lives.

See also

• Genetic disorder
• Aniridia
• Cerebellar ataxia
• Mental deficiency

NIH genetic and rare disease info

• NIH info on Aniridia cerebellar ataxia mental deficiency

Aniridia cerebellar ataxia mental deficiency is a rare disease.