Presentation
[…] level: Disorder Synonym(s): CMT4J Prevalence: 1 / 1 000 000 Inheritance: Autosomal recessive Age of onset: Infancy, Childhood, Adult ICD-10: G60.0 OMIM: 611228 UMLS: C1970011 MeSH: - GARD: 12443 MedDRA: - The documents contained in this web site are presented [orpha.net]
The majority of affected children present with scoliosis (curvature of the spine) between ages 2 and 10 years. Slow, progressive CMT symptoms such as muscle weakness and numbness usually manifest in the first decade or at adolescence. [charcot-marie-toothnews.com]
Entire Body System
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Weakness
Charcot-Marie-Tooth disease type 4 characterized by childhood- to adulthood-onset of variably severe, rapidly progressive, axonal and demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness [orpha.net]
Symptoms CMT4 causes muscle weakness, mostly in the distal muscles (those far from the center of the body), but sometimes also in proximal muscles (those close to the center of the body). [charcot-marie-toothnews.com]
Musculoskeletal
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Muscle Weakness
weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia. [orpha.net]
Symptoms CMT4 causes muscle weakness, mostly in the distal muscles (those far from the center of the body), but sometimes also in proximal muscles (those close to the center of the body). [charcot-marie-toothnews.com]
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Floppy Muscle
When CMT4 begins in infancy, it is characterized by low muscle tone (loose, floppy muscles). CMT4 patients also may develop other symptoms such as cataracts or deafness. The symptoms vary from mild to severe. [charcot-marie-toothnews.com]
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Hand Deformity
Symptoms include distal weakness, muscle wasting, sensory loss, foot and hand deformities, and loss of deep tendon reflexes (nerve reflexes that determine muscle contraction upon tapping). [charcot-marie-toothnews.com]
Neurologic
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Areflexia
[…] demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia [orpha.net]
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Areflexia
[…] demyelinating sensorimotor neuropathy typically manifesting with delayed motor development, proximal and distal asymmetric muscle weakness and atrophy of the lower and upper extremities, severe motor dysfunction with mildly reduced sensory impairment, and areflexia [orpha.net]
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Paresis
Hearing loss, vocal cord involvement, and facial paresis (partial paralysis) have been reported. The nerve conduction velocity (the speed at which nerve signals travel across nerve cells) is slow and usually ranges between 16 and 36 m/s in the arms. [charcot-marie-toothnews.com]
Treatment
The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. [charcot-marie-toothnews.com]
Prevention
Mutations in EGR2 result in an abnormal protein that is unable to bind to the DNA, preventing the expression of genes involved in myelin production. This results in loss of myelin and impaired nerve signal transmission. [charcot-marie-toothnews.com]