Living with Dejerine-Sottas disease
A severe form of Charcot-Marie-Tooth disease starting in infancy, with muscle weakness and slow nerve signals.
Understanding Dejerine-Sottas disease
It causes severe muscle weakness, delayed motor development, and extremely slow nerve signals. The PMP22, MPZ, EGR2, and PRX genes have been linked to it. GARD lists onset in infancy.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Absent tendon reflexes
- Weakness in the lower legs and feet
- Delayed motor development
- Flat feet
- Reduced vibration sense in the feet and hands
- Damage to the nerve covering (myelin)
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.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
- 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 genes cause this condition. The PMP22, MPZ, EGR2, and PRX genes have been linked to it. GARD lists autosomal dominant and autosomal recessive inheritance.
Also known as: charcot-marie-tooth disease type 3; charcot-marie-tooth disease, type 3; cmt3; dejerine-sottas neuropathy; dejerine-sottas syndrome; déjérine-sottas disease
Patient organizations
- Hereditary Neuropathy Foundation Inc.Dejerine-Sottas disease · United States
- Charcot-Marie-Tooth AssociationDejerine-Sottas disease · United States
- Muscular Dystrophy AssociationDejerine-Sottas disease · 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 Dejerine-Sottas disease.
Explore research for Dejerine-Sottas disease
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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