Paula and Bobby
Parents of Lillie
Amyotrophic Lateral Sclerosis - Flail Arm Type
What is Amyotrophic Lateral Sclerosis - Flail Arm Type?
Amyotrophic Lateral Sclerosis - Flail Arm Type is a rare disease. It is also known as BAD Brachial amyotrophy Flail arm syndrome Man-in-the-barrel syndrome.
According to Hu et al., (1998) this is probably a sub-division of the broader amyotrophic lateral sclerosis, but it predominantly affects the arms. They identified 39 (10% of the total ALS patients) to have this and this group was found to have a better prognosis. Bulbar signs (often mild) were found in just over a half, and upper motor neuron signs were found in the lower limbs in 77%. The authors (Hu et al., 1998), found a similar description in the Gowers textbook 'Diseases of the nervous system', of 1888. Eight further patients were reported by Sasaki and Iwata, (1999). At post-mortem (two patients) both had intracytoplasmic inclusions as seen in ALS.
In the Hu et al., (1998) study, there was a 9:1 M:F ratio, and the familial incidence of 9% was the same as that for ALS. The condition is well reviewed by Katz et al., (1999) and a further case was reported by Czaplinski et al., (2004). Interestingly, a case reported by Valento et al., (2005) with the BAD phenotype had a SOD1 mutation. Two brothers in their 70s reported by Di Vito et al., (2013) had SOD1 mutations
* This information is courtesy of the L M D.
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What gene changes cause Amyotrophic Lateral Sclerosis - Flail Arm Type?
The syndrome is inherited in the following inheritance pattern/s:
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.
Sporadic - 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.
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 Amyotrophic Lateral Sclerosis - Flail Arm Type?
The typical symptoms of the syndrome are:
How does someone get tested for Amyotrophic Lateral Sclerosis - Flail Arm Type?
The initial testing for Amyotrophic Lateral Sclerosis - Flail Arm Type 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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