Living with Charcot-Marie-Tooth disease dominant intermediate E
An inherited nerve condition that comes with a kidney problem called focal segmental glomerulosclerosis.
Understanding Charcot-Marie-Tooth disease dominant intermediate E
The nerve features are slowly worsening weakness and wasting in the hands and feet, loss of feeling there, weak or absent reflexes, and foot differences. The kidney disease shows up as protein in the urine and can progress to kidney failure. Mild or moderate hearing loss may also occur.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Wasting of muscles in the hands and feet
- Nerve damage (peripheral neuropathy)
- Absent tendon reflexes
- Hearing loss from nerve damage
- Kidney disease (protein in the urine)
- Advanced kidney disease
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, genetic specialists and kidney specialists.
- 3Consider genetic testing
Changes in INF2 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
The Foundation for Peripheral Neuropathy may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists); Kidney specialists (nephrologists)
- Expert care
- Expert lists: The Foundation for Peripheral Neuropathy
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with National Kidney Foundation and other patient organizations
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the INF2 gene cause this condition. It is inherited in an autosomal dominant way, so one changed copy of the gene can cause it.
Also known as: autosomal dominant intermediate charcot-marie-tooth disease type e; charcot-marie-tooth disease dominant intermediate type e; charcot-marie-tooth disease with nephropathy syndrome; charcot-marie-tooth disease-nephropathy syndrome; charcot-marie-tooth disease, dominant intermediate type e; charcot-marie-tooth neuropathy with focal segmental glomerulonephritis
Patient organizations
- National Kidney FoundationKidney diseases · United States
- Renal Support NetworkKidney diseases · United States
- The Foundation for Peripheral NeuropathyPeripheral neuropathy · United States
- Neuropathy Action FoundationPeripheral neuropathy · United States
You are more than your diagnosis
Perspectives from people navigating life with Charcot-Marie-Tooth disease dominant intermediate E.
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