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| Disease found: | Dejerine-Sottas Syndrome |
| Current as of: | October 8, 2024 |
| Disease Overview: | Inherited disorder that progressively affects the peripheral nerves, hindering the body's ability to move [more info] |
| Signs and Symptoms: | Often begins suddenly at age 2 with tingling, prickling, or burning, as well as muscle weakness that starts in the back of the leg and moves to the front. Delayed motor milestones, mild vision difficulties, pain, loss of heat sensitivity, atrophy of leg muscles, ataxia, scoliosis |
| Diagnosis: | Genetic testing or criteria for a clinical diagnosis: 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 |
| Treatment: | Supportive |
| Clinical Management: | Ankle or foot surgery or special shoes with good ankle support, acetaminophen and NSAIDs for muscle pain, gabapentin or carbamazepine for nerve pain |
| Referral: | 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: | A variety of clinical trials can be found on clinicaltrials.gov |