Paula and Bobby
Parents of Lillie
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.
What gene changes cause 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 effects 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 does someone get tested for Cerebellar Ataxia, Non Progressive, with Mental Retardation (CANPMR)?
The initial testing for Cerebellar Ataxia, Non Progressive, with Mental Retardation can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow.
Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.
What is FDNA Telehealth?
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