Living with Charcot-Marie-Tooth disease type 1B
An inherited nerve condition caused by MPZ gene changes that can start in infancy or much later in adulthood.
Understanding Charcot-Marie-Tooth disease type 1B
It causes weakness and wasting of the muscles farthest from the center of the body, foot differences, and loss of feeling. Severity varies with the gene change. One form begins in infancy with delayed walking and is often called Dejerine-Sottas syndrome. Another begins much later, after age 40.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Muscle weakness
- Muscle wasting
- Absent tendon reflexes
- Hearing loss
- Changes in the pupils
- Nerve damage (peripheral neuropathy)
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 and genetic specialists.
- 3Consider genetic testing
Changes in MPZ 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
Hereditary Neuropathy Foundation Inc., Charcot-Marie-Tooth Association and Muscular Dystrophy Association may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Genetic specialists (geneticists)
- Expert care
- Expert lists: Hereditary Neuropathy Foundation Inc., Charcot-Marie-Tooth Association, Muscular Dystrophy Association
- 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 Hereditary Neuropathy Foundation Inc. 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 MPZ 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 charcot-marie-tooth disease with focally folded myelin sheaths type 1b; charcot-marie-tooth disease slow nerve conduction type linked to duffy; charcot-marie-tooth disease type 1 caused by mutation in mpz; charcot-marie-tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1b; charcot-marie-tooth disease, demyelinating, type 1b; charcot-marie-tooth disease, slow nerve conduction type, linked to duffy
Patient organizations
- Hereditary Neuropathy Foundation Inc.Charcot-Marie-Tooth disease type 1B · United States
- Charcot-Marie-Tooth AssociationCharcot-Marie-Tooth disease type 1B · United States
- Muscular Dystrophy AssociationCharcot-Marie-Tooth disease type 1B · United States
- CMT Research FoundationCharcot-Marie-Tooth disease type 1B · 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 type 1B.
Explore research for Charcot-Marie-Tooth disease type 1B
Explore actively recruiting Charcot-Marie-Tooth disease type 1B studies with HealthSpark.
Find actively recruiting studies for Charcot-Marie-Tooth disease type 1B with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Charcot-Marie-Tooth disease type 1B studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Charcot-Marie-Tooth disease type 1B
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Charcot-Marie-Tooth disease type 1B experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.