Paula and Bobby
Parents of Lillie
Brachial Palsy - Familial Congenital
What is Brachial Palsy - Familial Congenital?
Brachial Palsy - Familial Congenital is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
Many members of a family described by Mollica et al., (1991), (with incomplete penetrance), had atrophy, weakness and wasting in the upper limbs since birth. The affected limbs were thin and short, and the lower limbs were unaffected. The authors state that 'there is no pain sensation', but a distribution of this is not given and the results of the EMG are simply stated as 'chronic neurogenic', without further detail.
Two further families were reported by Zaki et al., (2004). Both famies were consanguineous, and many members were affected.
* This information is courtesy of the L M D.
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What gene changes cause Brachial Palsy - Familial 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.
Autosomal Dominant - 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.
Uncertain - The exact mode of inheritance was unknown at the time this entry was recorded.
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 Brachial Palsy - Familial Congenital?
The typical symptoms of the syndrome are:
How does someone get tested for Brachial Palsy - Familial Congenital?
The initial testing for Brachial Palsy - Familial 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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