Paula and Bobby
Parents of Lillie
Charcot-Marie-Tooth Disease, Axonal, Type 2f; CMT2F
What is Charcot-Marie-Tooth Disease, Axonal, Type 2f; CMT2F?
Charcot-Marie-Tooth Disease, Axonal, Type 2f; CMT2F is a rare disease. It is also known as Charcot-marie-tooth Disease, Neuronal, Type 2f Charcot-marie-tooth Neuropathy, Type 2f CMT2F.
A Russian kindred with an axonal type of neuropathy, mapped to 7q11-7q21 (Ismailov et al., 2001). The age of onset was between 15-25 years, with distal weakness and wasting. Mild sensory impairment occured and there was fasciulation and trophic changes in the elderly. Conduction velocities were normal. Mutations in this condition have been reported in the small heat-shock protein 27 (Evgrafov et al., 2004). Another mutation was reported by Kijima et al., (2005) in 1 out of 74 Japanese patients with either an axonal neuropathy or a distal motor neuropathy. The patient reported by James et al., (2008) had an onset at 65 years of an asymmerical neuropathy. Solla et al., (2010), reported a large family and emphasize the overlap with distal hereditary motor neuropathy.
Tanabe et al. (2018) identified 13 patients with a mutation in the HSPB1 gene. Seven of the patients were diagnosed with Charcot Marie Tooth disease type 2F (based on neurological and electrophysical findings). The remaining six patients were diagnosed with distal hereditary motor neuropathy type 2B.
* This information is courtesy of the L M D.
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What gene changes cause Charcot-Marie-Tooth Disease, Axonal, Type 2f; CMT2F?
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 - 606595 (please check the OMIM page for updated information)
The syndrome can be caused by mutations in the following gene/s location/s:
HSPB1 - 7q11.23
What are the main symptoms of Charcot-Marie-Tooth Disease, Axonal, Type 2f; CMT2F?
The typical symptoms of the syndrome are:
Hyporeflexia, Muscle spasm, Foot dorsiflexor weakness, Steppage gait, Autosomal dominant inheritance, Pes cavus, Areflexia, Ulnar claw, Chronic axonal neuropathy, Distal muscle weakness, Distal amyotrophy, Distal sensory impairment, Decreased motor nerve conduction velocity, Fasciculations
How does someone get tested for Charcot-Marie-Tooth Disease, Axonal, Type 2f; CMT2F?
The initial testing for Charcot-Marie-Tooth Disease, Axonal, Type 2f; CMT2F 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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