I would like to ask if you have any information about Conjenital Cerraabellar Ataxia Atrophy. My daughter is 13 years old & was diagnosed with this when she was 18 month's old. In the last couple of years she as been in and out of Hospice's. I 'am none the wiser of knowing information about her condition or the corse of it, from when I first found out.
I would love to know more & to be able to understand it better. Or if there are any self-help groups with more information.
I would be very greatfull if you could answer this letter.
Congenital cerebellar ataxia is a diagnosis of exclusion used for describing children with a static or relatively static motor disorder characterised by ataxia or incoordination and gait imbalance, in whom a metabolic disorder has been excluded. "Static" refers to the fact that motor milestones (such as walking, manipulating objects, etc) may be achieved later than usual, but are not lost (i.e. there is no regression). Congenital cerebellar ataxias thus resemble cerebral palsy somewhat, but differ in that the trouble is incoordination, not spasticity.
There are some specific syndromes of congenital cerebellar ataxia (such as Joubert's syndrome, for instance) that are familial (recessively inherited). Some metabolic disorders may resemble congenital ataxia and should be actively looked for, because there may be specific therapies for those. Congenital cerebellar ataxia does not have any effective specific treatment.
I am sure a pediatric neurology consultation, specially at a major academic center, would help clarify these issues.
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