Dejerine-Sottas syndrome

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ORPHA:64748OMIM:618184G60.0
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23Specialists8Treatment centers

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Overview

Dejerine-Sottas syndrome (DSS) is a rare and severe inherited nerve disease that affects the peripheral nervous system — the network of nerves outside the brain and spinal cord. It is sometimes called Dejerine-Sottas disease, hereditary motor and sensory neuropathy type III (HMSN III), or DSS. The condition causes the protective covering around nerve fibers (called myelin) to break down, which slows or blocks the signals nerves send to muscles and skin. This leads to significant muscle weakness, loss of coordination, and reduced ability to feel touch, pain, or temperature. Symptoms usually appear in infancy or early childhood and tend to be more severe than related nerve diseases like Charcot-Marie-Tooth disease. Children with DSS may be slow to reach motor milestones like sitting, standing, or walking. Over time, many people develop foot deformities, scoliosis (curved spine), and may lose the ability to walk independently. Breathing can also be affected in some cases. There is currently no cure for Dejerine-Sottas syndrome. Treatment focuses on managing symptoms, maintaining mobility, and improving quality of life through physical therapy, occupational therapy, orthopedic devices, and sometimes surgery. A team of specialists works together to support people living with this condition throughout their lives.

Also known as:

Key symptoms:

Severe muscle weakness, especially in the arms and legsLoss of feeling or numbness in the hands and feetDifficulty walking or loss of ability to walkPoor balance and coordinationFoot deformities such as high arches or flat feetCurved spine (scoliosis)Enlarged, thickened nerves that can sometimes be felt under the skinReduced or absent reflexes (for example, no knee-jerk reflex)Tremors or shakingDelayed motor milestones in infancy and childhoodBreathing difficulties in severe casesFatigue due to the effort of moving weakened musclesSensitivity to touch or abnormal sensations like tingling

Inheritance

Variable

Can be inherited in different ways depending on the underlying gene

Age of Onset

Infantile

Begins in infancy, roughly 1 month to 2 years old

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Dejerine-Sottas syndrome.

View clinical trials →

No actively recruiting trials found for Dejerine-Sottas syndrome at this time.

New trials open frequently. Follow this disease to get notified.

Search ClinicalTrials.gov ↗Join the Dejerine-Sottas syndrome community →

Specialists

23 foundView all specialists →
LM
Laurent Servais, MD
Specialist
PI on 6 active trials1 Dejerine-Sottas syndrome publication
NM
Nancy E Braverman, MD, MS
BALTIMORE, MD
Specialist
PI on 2 active trials
JM
Jeffrey Statland, MD
KANSAS CITY, KS
Specialist
PI on 7 active trials
NS
Nizar Souayah
NEWARK, NJ
Specialist
1 Dejerine-Sottas syndrome publication
MJ
Mustafa Jaffry
NEWARK, NJ
Specialist
1 Dejerine-Sottas syndrome publication
SB
Soumya Bouchachi
COLUMBUS, OH
Specialist
1 Dejerine-Sottas syndrome publication
MA
Mohsen Ahmed
STONY BROOK, NY
Specialist
1 Dejerine-Sottas syndrome publication
SG
Steve N Gad
NEWARK, NJ
Specialist
1 Dejerine-Sottas syndrome publication
SS
Swati Sathe
PATERSON, NJ
Specialist
1 Dejerine-Sottas syndrome publication
SP
Scott T Stoll, D.O., Ph.D.
BETHLEHEM, PA
Specialist
PI on 1 active trial
DB
David G Cashley, BSc(Hons)Pod
Specialist
PI on 1 active trial
ND
naciye bilgin badur, doctor
Specialist
PI on 1 active trial2 Dejerine-Sottas syndrome publications

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Dejerine-Sottas syndrome.

Search all travel grants →NORD Financial Assistance ↗

Community

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Latest news about Dejerine-Sottas syndrome

Disease timeline:

New recruiting trial: Effect of Night-time and Full-time Splinting for Carpal Tunnel Syndrome

A new clinical trial is recruiting patients for Dejerine-Sottas syndrome

Caregiver Resources

NORD Caregiver Resources

Support, advocacy, and financial assistance for caregivers of rare disease patients.

Mental Health Support

Rare disease caregiving can be isolating. Connect with counseling and peer support.

Family & Caregiver Grants

Financial assistance programs specifically for caregivers of rare disease patients.

Social Security Disability

Learn how rare disease patients may qualify for SSDI/SSI benefits.

Questions for your doctor

Bring these to your next appointment

  • Q1.Which gene mutation is causing my (or my child's) condition, and what does that mean for how the disease will progress?,What therapies or interventions should we start right away to protect muscle function and mobility?,How often should we have follow-up appointments, and which specialists should be part of our care team?,Are there any clinical trials or research studies we might be eligible for?,What signs should prompt us to seek emergency care?,Should other family members be tested for the same genetic mutation?,What school or workplace accommodations would you recommend, and can you help us document them?

Common questions about Dejerine-Sottas syndrome

What is Dejerine-Sottas syndrome?

Dejerine-Sottas syndrome (DSS) is a rare and severe inherited nerve disease that affects the peripheral nervous system — the network of nerves outside the brain and spinal cord. It is sometimes called Dejerine-Sottas disease, hereditary motor and sensory neuropathy type III (HMSN III), or DSS. The condition causes the protective covering around nerve fibers (called myelin) to break down, which slows or blocks the signals nerves send to muscles and skin. This leads to significant muscle weakness, loss of coordination, and reduced ability to feel touch, pain, or temperature. Symptoms usually ap

At what age does Dejerine-Sottas syndrome typically begin?

Typical onset of Dejerine-Sottas syndrome is infantile. Age of onset can vary across affected individuals.

Which specialists treat Dejerine-Sottas syndrome?

23 specialists and care centers treating Dejerine-Sottas syndrome are listed on UniteRare, sourced from ClinicalTrials.gov principal investigators, published research, and the NPPES NPI registry.