Paula and Bobby
Parents of Lillie
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3; CMTX3
What is Charcot-Marie-Tooth Disease, X-Linked Recessive, 3; CMTX3?
Charcot-Marie-Tooth Disease, X-Linked Recessive, 3; CMTX3 is a rare disease. It is also known as Charcot-Marie-Tooth disease - X-linked, recessive Charcot-marie-tooth Neuropathy, X-linked Recessive, 3 CMTX2 CMTX3.
This refers to an X-linked pedigree described only briefly by Ionasescu et al., (1992). Two of the 5 affected males were mentally slow, and the onset of the neuropathy seemed to be towards the end of the first year of life. Carrier females were clinically normal. There is linkage data to suggest a localization to Xp22.2, but Ionasescu et al., (1991), found linkage to Xq26-28 in two other families with a similar clinical picture.
* This information is courtesy of the L M D.
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What gene changes cause Charcot-Marie-Tooth Disease, X-Linked Recessive, 3; CMTX3?
The syndrome is inherited in the following inheritance pattern/s:
X-Linked Recessive - Syndromes inherited in an X-linked recessive pattern generally only affect males. Males only have one X chromosome, and so one copy of a gene mutation on it causes the syndrome. Females, with two X chromosomes, only one of which will be mutated, are not likely to be affected.
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 - 302802 (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, X-Linked Recessive, 3; CMTX3?
The typical symptoms of the syndrome are:
Foot dorsiflexor weakness, Gait disturbance, Kyphosis, Hypertonia, Hemiplegia/hemiparesis, Incoordination, X-linked recessive inheritance, Steppage gait, Upper limb muscle weakness, Scoliosis, Reduced consciousness/confusion, Abnormal pyramidal sign, Pes cavus, Skeletal muscle atrophy, Areflexia, Muscle weakness, Neurological speech impairment, Tremor, EMG: axonal abnormality, Impaired pain sensation, Decreased nerve conduction velocity, Distal sensory impairment, Distal muscle weakness, Distal amyotrophy
How does someone get tested for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3; CMTX3?
The initial testing for Charcot-Marie-Tooth Disease, X-Linked Recessive, 3; CMTX3 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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