Non-progressive congenital ataxia (NPCA) is a
non-progressive
Progressive disease or progressive illness is a disease or physical ailment whose course in most cases is the worsening, growth, or spread of the disease. This may happen until death, serious debility, or organ failure occurs. Some progressive di ...
form of
cerebellar ataxia which can occur with or without
cerebellar hypoplasia.
Cause
NPCA is a syndrome and can have diverse causes. It has a genetic basis and inheritance is considered to be
autosomal recessive
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
. However,
autosomal dominant
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
variety has also been reported. There may be familial balanced translocation t(8;20)(p22;q13) involved.
Diagnosis
Neuroimaging like
MRI is important. However, there was considerable intrafamilial variability regarding neuroimaging, with some individuals showing normal MRI findings.
Early individual prognosis of such
autosomal recessive cerebellar ataxia Autosomal recessive cerebellar ataxia () describes a heterogeneous group of rare genetic disorders with an autosomal recessive inheritance pattern and a clinical phenotype involving cerebellar ataxia.
It may refer to:
* Autosomal recessive cereb ...
s is not possible from early developmental milestones, neurological signs, or neuroimaging.
Management
References
{{Lesions of spinal cord and brain
Systemic atrophies primarily affecting the central nervous system
Congenital disorders of nervous system