Amyloid Myopathy

What is Amyloid Myopathy?

Amyloid Myopathy is a rare disease. It is also known as Myopathy - amyloid.

Amyloid only rarely presents as a myopathy. Thirteen patients with weakness lasting between 3 months and 4 years were reported by Spuler et al., (1998). None were suspected of having systemic disease. All were diagnosed at muscle biopsy (congophylic deposits around blood vessels) and immunostaining revealed immunoglobulin amyloidosis in 7 and gelsolin amyloidosis in 1. All were single cases, but Spuler et al., (1998) found 5 familial cases in the literature. The patient reported by Rodolico et al., (2006) had an acute episode of rhabdomyolysis.

* This information is courtesy of the L M D.

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What gene changes cause Amyloid Myopathy?

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.


Environment - Environmental causes, or exposure to external environmental factors, can sometimes contribute to the cause of a rare disease.


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:
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What are the main symptoms of Amyloid Myopathy?

The typical symptoms of the syndrome are:
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How does someone get tested for Amyloid Myopathy?

The initial testing for Amyloid Myopathy 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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