Paula and Bobby
Parents of Lillie
Amyotrophic Lateral Sclerosis - Progressive Muscular Atrophy
What is Amyotrophic Lateral Sclerosis - Progressive Muscular Atrophy?
Amyotrophic Lateral Sclerosis - Progressive Muscular Atrophy is a rare disease.
There are currently no additional known synonyms for this rare genetic disease.
This is a subgroup of amyotrophic lateral sclerosis (ALS) in which patients present with progressive distal atrophy and for many years do not develop upper motor neuron signs (corticospinal tract degeneration might be found at PM (Ince et al., 2003). Fasciculation occurs in peripheral muscles and occasionally in facial muscles, but there are no sensory signs which distinguishes this from the X-linked spinal muscular atrophy. In addition, the distribution of muscle weakness remains predominantly distal and gynecomastia does not occur, clinically distinguishing this further from X-linked spinal muscular atrophy. Eosinophilic cytoplasmic inclusions (Bunina bodies) are the same as those seen in ALS. As in ALS, Lewy-like bodies are also found.
Twelve cases in three unrelated kindred were reported by Cervenakova et al., (2000). Onset was between 26-57, and death from respiratory failure occurred from 13-48 months later. Intracytoplasmic hyaline inclusions were a feature. Two of the 12 patients studied had a SOD1 D101N mutation. Note that the inclusions found are similar to those seen in FALS patients with A4V, H48G and 126 mutations.
Note the family reported by Tsuchiya et al., (2000). Burnina bodies were abundant, but no SOD 1 mutations were found. The course was relatively benign, posterior column involvement was found at PM and onset was with bulbar signs.
Nogo-A expression in muscle biopsy correctly identifies with 91% accuracy, those who will progress to have ALS (Pradat et al., 2007)
* This information is courtesy of the L M D.
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What gene changes cause Amyotrophic Lateral Sclerosis - Progressive Muscular Atrophy?
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.
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 - Progressive Muscular Atrophy?
The typical symptoms of the syndrome are:
How does someone get tested for Amyotrophic Lateral Sclerosis - Progressive Muscular Atrophy?
The initial testing for Amyotrophic Lateral Sclerosis - Progressive Muscular Atrophy 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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