Paula and Bobby
Parents of Lillie
Charcot-Marie-Tooth Disease, Axonal, Type 2g; CMT2G
What is Charcot-Marie-Tooth Disease, Axonal, Type 2g; CMT2G?
Charcot-Marie-Tooth Disease, Axonal, Type 2g; CMT2G is a rare disease. It is also known as Charcot-marie-tooth Neuropathy, Type 2g CMT2G - linked to12q12-13.
Berciano et al., (1986) descibed a dominantly inherited neuropathy with an age of onset between 9 and 76 years. Most developed symptoms in the second decade and progression was slow. Mild stocking hypaesthesia was found. Only 2 had upper limb involvement. Nerve conduction was slightly slowed and a biopsy showed loss of myelinated fibres. The gene in this family (Nelis et al., 2004) has been mapped to 12q12-12q13.
* This information is courtesy of the L M D.
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What gene changes cause Charcot-Marie-Tooth Disease, Axonal, Type 2g; CMT2G?
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.
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.
OMIM Number - 608591 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
What are the main symptoms of Charcot-Marie-Tooth Disease, Axonal, Type 2g; CMT2G?
The typical symptoms of the syndrome are:
Areflexia, Axonal degeneration/regeneration, Peripheral axonal atrophy, Distal muscle weakness, Distal amyotrophy, Distal sensory impairment, Decreased number of peripheral myelinated nerve fibers, Decreased motor nerve conduction velocity, Hyporeflexia, Hammertoe, Autosomal dominant inheritance, Pes cavus, Slow progression, Steppage gait
How does someone get tested for Charcot-Marie-Tooth Disease, Axonal, Type 2g; CMT2G?
The initial testing for Charcot-Marie-Tooth Disease, Axonal, Type 2g; CMT2G 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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