Charcot-Marie-Tooth disease type 1E
A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.
Also known as: CMT1E, Charcot-Marie-Tooth disease and deafness, Charcot-Marie-Tooth disease, type 1E, Charcot-Marie-Tooth disease-deafness syndrome, CMT 1E, Charcot Marie Tooth disease type 1E.
Category: General
Symptoms associated with Charcot-Marie-Tooth disease type 1E
The following symptoms have been associated with Charcot-Marie-Tooth disease type 1E in medical literature. Not everyone experiences the same symptoms.
Ankle weakness
Reduced strength of the muscles that lift or otherwise move the foot at the ankle....
Distal muscle weakness
Reduced strength of the musculature of the distal extremities....
Foot dorsiflexor weakness
Weakness of the muscles responsible for dorsiflexion of the foot, that is, of the movement of the toes towards...
Limb muscle weakness
Reduced strength and weakness of the muscles of the arms and legs....
Sensorineural hearing impairment
A type of hearing impairment in one or both ears related to an abnormal functionality of the cochlear nerve....
Thenar muscle weakness
Information about Thenar muscle weakness....
Tremor
An unintentional, oscillating to-and-fro muscle movement about a joint axis....
Tests used to investigate Charcot-Marie-Tooth disease type 1E
Healthcare providers may order these tests when evaluating Charcot-Marie-Tooth disease type 1E. Test selection is a clinical decision made by a qualified professional.
CBC with Differential
Measures red blood cells, white blood cells, and platelets to help evaluate overall health and detect disorder...
Comprehensive Metabolic Panel (CMP)
Measures 14 substances in the blood to assess kidney and liver function, electrolyte balance, and blood sugar ...
Urinalysis
Examines urine content to help detect urinary tract infections, kidney disease, and diabetes....
Conditions with overlapping symptoms
These conditions share symptoms with Charcot-Marie-Tooth disease type 1E, which is why a clinical evaluation is important.
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Frequently Asked Questions
What is Charcot-Marie-Tooth disease type 1E?
Charcot-Marie-Tooth disease type 1E is a health condition described in medical literature. A rare subtype of CMT1 characterized by a variable clinical presentation. Onset within the first two years of life with a delay in walking is not uncommon; however, onset may occur later. CMT1E is caused by point mutations in the PMP22 (17p12) gene. The disease severity depends on the particular PMP22 mutation, with some cases being very mild and even resembling hereditary neuropathy with liability to pressure palsies, while others having an earlier onset with a more severe phenotype (reminiscent of Dejerine-Sottas syndrome) than that seen in CMT1A, caused by gene duplication. These severe cases may also report deafness and much slower motor nerve conduction velocities compared to CMT1A patients.
What are the symptoms of Charcot-Marie-Tooth disease type 1E?
Charcot-Marie-Tooth disease type 1E is associated with 7 symptoms in the medical literature we index, including Ankle weakness, Distal muscle weakness, Foot dorsiflexor weakness, Limb muscle weakness, Sensorineural hearing impairment, Thenar muscle weakness. Symptoms vary widely between individuals.
How is Charcot-Marie-Tooth disease type 1E diagnosed or investigated?
A healthcare provider may use a combination of medical history, physical examination, and tests. Common tests associated with Charcot-Marie-Tooth disease type 1E include CBC with Differential, Comprehensive Metabolic Panel (CMP), Urinalysis. This information is educational, not a diagnosis.
Is SymptomDatabase.com diagnosing me?
No. SymptomDatabase.com does not provide diagnosis. If you are concerned you may have Charcot-Marie-Tooth disease type 1E, please discuss your symptoms with a qualified healthcare provider.