Dejerine-Sottas Syndrome

Not yet reviewed

This information is AI generated and has not yet been reviewed by a specialist physician. AI can make mistakes.

Disease overview

Inherited disorder that progressively affects the peripheral nerves, hindering the body's ability to move

Common symptoms

Often begins suddenly at age 2 with tinglingpricklingor burningas well as muscle weakness that starts in the back of the leg and moves to the front. Delayed motor milestonesmild vision difficultiespainloss of heat sensitivityatrophy of leg musclesataxiascoliosis

When to suspect

  • Recommendation 1

    Genetic testing or criteria for a clinical diagnosis
  • Recommendation 2

    Symptoms beginning by age two with delayed motor milestones, Severe motor and sensory impact, Motor nerve conduction velocity is greatly lowered, Nerve biopsy shows loss of myelin

How to test

  • Recommendation 1

    Genetic testing or criteria for a clinical diagnosis
  • Recommendation 2

    Symptoms beginning by age two with delayed motor milestones, Severe motor and sensory impact, Motor nerve conduction velocity is greatly lowered, Nerve biopsy shows loss of myelin

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Treatment

  • Recommendation 1

    Supportive

Primary care

  • Recommendation 1

    Ankle or foot surgery or special shoes with good ankle support, acetaminophen and NSAIDs for muscle pain, gabapentin or carbamazepine for nerve pain

Further support

  • Recommendation 1

    Neurologists, physiatrists, orthopedic surgeons, PT, OT. Referral to Medical Genetics Department, if available. Initial virtual care is also available through organizations like TeleRare Health.

Clinical trials

Clinical Trials

Sources

No data available

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