Cerebellar Ataxia, Non Progressive, with Mental Retardation (CANPMR)

What is Cerebellar Ataxia, Non-Progressive, with Mental Retardation (CANPMR)?

This rare disease is a genetic condition which affects the cerebellum (the part of the brain responsible for the control of fine voluntary movements) making it is a neurodevelopmental condition.

The syndrome also presents with developmental delay and intellectual disability.

Also known as: Cerebellar Dysfunction with Variable Cognitive and Behavioral Abnormalities; CECBA.

What gene change causes Cerebellar Ataxia, Non-Progressive, with Mental Retardation (CANPMR)?

Mutations to the CAMTA1 gene are responsible for the syndrome. The disease is inherited in an autosomal dominant pattern.

In the case of autosomal dominant inheritance, just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Cerebellar Ataxia, Non-Progressive, with Mental Retardation (CANPMR)?

Cerebellar ataxia is the most significant symptom of the syndrome. This means the cerebellum (the part of the brain that controls fine voluntary movements) is inflamed or damaged. This affects the ability of individuals to control their fine voluntary movements and affects both gait and muscle coordination.

Other symptoms of the syndrome include the development of intellectual disability later in childhood and adulthood, as well as delayed speech development. Developmental delay is also common.

Physical features of the syndrome include general hypotonia (low muscle tone), macrocephaly (a larger head than average), and strabismus (crossed eyes).

How is Cerebellar Ataxia, Non-Progressive, with Mental Retardation (CANPMR) diagnosed?

To find out if someone has a diagnosis of Cerebellar Ataxia, Non-Progressive with Mental Retardation (CANPMR), it is important to have a consultation and evaluation with a clinical genetic specialist.  Specialists may also suggest specific genetic testing or other types of tests to help reach a diagnosis.  FDNA’s AI technology can help speed up the diagnostic process by analyzing facial features and other health information.

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