Paula and Bobby
Parents of Lillie
Benign Congenital Hypotonia
What is Benign Congenital Hypotonia?
Benign Congenital Hypotonia is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
This is a difficult diagnosis to make in infancy as it does imply that all will be well. It was first used by Walton in 1956, and has come to include floppy children with normal reflexes, no respiratory problems in the newborn period, and in whom no obvious cause has been found for the hypotonia. They walk on average at 19 months and often bottom shuffle. When placed with support in the sitting position at the appropriate age they will tend to adopt a 'sitting on air position'. Improvement is steady but many children remain clumsy and have minor neurological problems. A follow-up of 41 patients was reported by Carboni et al., (2002). These authors comment on the good prognosis and that the familial incidence was 33.3% (similar to the figure reported by Shuper et al., (1987).
* This information is courtesy of the L M D.
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What gene changes cause Benign Congenital Hypotonia?
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.
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
Multifactorial - If a syndrome is inherited in a multifactorial pattern, it means it is caused by several factors. These factors will be genetic and environmental in nature. Generally, the specific environmental factors are unknown, or yet not proven.
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 Benign Congenital Hypotonia?
The typical symptoms of the syndrome are:
How does someone get tested for Benign Congenital Hypotonia?
The initial testing for Benign Congenital Hypotonia 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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