Charcot-Marie-Tooth Disease
Conditions
Interventions
CMT patient group:None
Control group:None
Sponsors
Shanghai Sixth People’s Hospital
Eligibility
Sex/Gender
All
Age
12 Years to 70 Years
Inclusion criteria
Inclusion criteria: Control group (amputees or trauma patients): 1. Patients aged 12-70 years old; 2. The reasons for amputation are clear: traumatic amputation (such as traffic accidents, mechanical injuries), amputation due to bone tumors; 3. No symptoms of peripheral neuropathy (numbness, muscle weakness, etc.) before amputation; 4. Trauma non amputees: Due to severe limb trauma requiring surgical exploration, but not reaching the level of amputation; 5.The patient agrees to participate in the research project and signs an informed consent form. Experimental group (CMT patients): 1.Patients aged 12-70 years old; 2. Meets the clinical diagnostic criteria for CMT (progressive distal muscle weakness/atrophy+sensory impairment); 3.Genetic testing confirms pathogenic mutations (such as PMP22 duplication, GJB1, MFN2, etc.); 4. Neuroelectrophysiological support (CMT1: motor nerve conduction velocity<38 m/s; CMT2: Cable damage); 5. Disease classification: Inclusion of subtypes (5 cases of CMT1A, 3 cases of CMT1B, 3 cases of CMT2A, 3 cases of CMT2C, 3 cases of CMT1X) to ensure homogeneity; 6. Biopsy indication: Clinically, biopsy is required to exclude other neurological disorders (such as CIDP); Or if the genetic test is negative, a neurological biopsy is required after evaluation by a neurologist; 7.The patient agrees to participate in the research project and signs an informed consent form.
Exclusion criteria
Exclusion criteria: 1. Individuals with mental and psychological abnormalities; 2. History of metabolic diseases: chronic ischemia or diabetes; 3. Serious systemic diseases: liver and kidney dysfunction, active infections, autoimmune diseases, etc; 4.Combined with other nervous system diseases: such as diabetes neuropathy, vitamin deficiency neuropathy, etc; 5. Contraindications for biopsy: coagulation dysfunction, local skin infections, etc; 6. Recent treatment interference: receiving immune modulators or experimental drugs within 3 months; 7. Potential nerve damage: There is nerve tension/compression injury near the amputation site; 8. Long term alcohol abuse, chemotherapy history and other neurotoxic exposures; 9.Researchers believe that surgery is not suitable for other acute and chronic diseases.
Design outcomes
Primary
| Measure | Time frame |
|---|---|
| Cell characteristics; | — |
Countries
China
Contacts
Public ContactJiang Jia
Shanghai Sixth People’s Hospital
Outcome results
None listed