Paula and Bobby
Parents of Lillie
Cerebellar Ataxia - Hypogonadotropic Hypogonadism, Congenital
What is Cerebellar Ataxia - Hypogonadotropic Hypogonadism, Congenital?
Cerebellar Ataxia - Hypogonadotropic Hypogonadism, Congenital is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Please note that in this category the retinae are normal - see elsewhere for a similar syndrome with retinal involvement. Also, intelligence and hearing are normal - see the Richards and Rundle (1959) paper for those with deafness and mental retardation. Most of the cases under the separate entry `cerebellar ataxia-hypogonadism and retinopathy' have an onset of the ataxia in late childhood or early adulthood, whereas here it is recognized as soon as the infant learns to walk. In the patient reported by Abs et al.,(1990) there was marked hypoplasia of the inferior vermis and the cerebellar hemispheres and the hormonal pattern suggested a lesion in the gonadotrophin and lactotrophin cells, and not the hypothalamus.
Ruvalcava, (1997) reported a child, a member of a big dominant pedigree with an empty sella and growth hormone deficiency. Multiple pituitary hormone deficiencies and a cerebellar ataxia were described in a single patient by Bhatia et al., (1993).
* This information is courtesy of the L M D.
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What gene changes cause Cerebellar Ataxia - Hypogonadotropic Hypogonadism, Congenital?
The syndrome is inherited in the following inheritance pattern/s:
Autosomal Recessive - Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms but have a 25% chance of passing the copies of the gene mutations onto each of their children.
In some cases, a genetic syndrome may be the result of a de-novo mutation and the first case in a family. In this case, this is a new gene mutation that occurs during the reproductive process.
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Cerebellar Ataxia - Hypogonadotropic Hypogonadism, Congenital?
The typical symptoms of the syndrome are:
How does someone get tested for Cerebellar Ataxia - Hypogonadotropic Hypogonadism, Congenital?
The initial testing for Cerebellar Ataxia - Hypogonadotropic Hypogonadism, Congenital can begin with facial genetic analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the type of genetic testing needed. 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.
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