ENFERMEDAD DE DEJERINE SOTTAS PDF

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources.

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This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals.

You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care. You can find more tips in our guide, How to Find a Disease Specialist.

We also encourage you to explore the rest of this page to find resources that can help you find specialists. Research helps us better understand diseases and can lead to advances in diagnosis and treatment.

This section provides resources to help you learn about medical research and ways to get involved. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services.

Inclusion on this list is not an endorsement by GARD. These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy.

If you do not want your question posted, please let us know. National Institutes of Health. COVID is an emerging, rapidly evolving situation. Menu Search Home Diseases Hypertrophic neuropathy of Dejerine-Sottas. You can help advance rare disease research! Title Other Names:. This disease is grouped under:. Charcot-Marie-Tooth disease. Summary Summary. Symptoms Symptoms. Showing of 26 View All.

Involuntary, rapid, rhythmic eye movements. Absent tendon reflexes. Distal muscle wasting. Decreased sensation in extremities. Foot drop. Decreased muscle tone. Low muscle tone.

Hammer toe. Decreased reflex response. Decreased reflexes. Onset in first year of life. Onset in infancy. Low or weak muscle tone. High-arched foot. Claw hand. Claw hand deformities. Claw hands. Claw-hand deformities. High stepping. Do you have more information about symptoms of this disease? We want to hear from you. Do you have updated information on this disease? Find a Specialist Find a Specialist. Healthcare Resources To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself.

Click on the link to search for specialty clinics nearest you. Services to enhance mobility and independent living are available in each community through the Muscular Dystrophy Association's local network of chapters and field offices.

Click here to read more about this service. The Muscular Dystrophy UK provides information regarding the Joseph Patrick Trust which provides financial support for specialist equipment. Click on the link to read more about this trust.

Research Research. Clinical Research Resources ClinicalTrials. Click on the link to go to ClinicalTrials. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study. Organizations Organizations. Organizations Supporting this Disease. Hereditary Neuropathy Foundation Inc. Do you know of an organization? Learn More Learn More. This website is maintained by the National Library of Medicine. In-Depth Information GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions.

Medscape Reference provides information on this topic. You may need to register to view the medical textbook, but registration is free. The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition. Each entry has a summary of related medical articles.

It is meant for health care professionals and researchers. Access to this database is free of charge. PubMed is a searchable database of medical literature and lists journal articles that discuss Hypertrophic neuropathy of Dejerine-Sottas.

Click on the link to view a sample search on this topic. Have a question? References References. Hypertrophic Neuropathy of Dejerine-Sottas. Medscape Reference. Gabreels-Festen A. Dejerine-Sottas syndrome grown to maturity: overview of genetic and morphological heterogeneity and follow-up of 25 patients. Bird TD. Do you know of a review article? Share this content:.

Close Copy Link. You May Be Interested In. How to Find a Disease Specialist. Tips for the Undiagnosed. Support for Patients and Families.

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Hypertrophic neuropathy of Dejerine-Sottas

Dejerine-Sottas disease: a case report. CONTEXT: Hereditary peripheral neuropathies hereditary motor-sensory neuropathies or hereditary demyelinating neuropathies are abnormalities of Schwann cells and their myelin sheaths, with peripheral nerve dysfunction. They include Charcot-Marie-Tooth disease, Dejerine-Sottas disease, congenital hypomyelinating neuropathy and hereditary neuropathy with liability to pressure palsy. Electromyography disclosed significant reduction in motor and sensory nerve conduction velocities. Sural nerve biopsy showed axons surrounded by a thin myelin sheath and concentrically arranged cytoplasmic processes of Schwann cells forming onion-bulbs. No axon damage was observed. Key words: Hereditary peripheral neuropathies.

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Dejerine–Sottas disease

Dejerine—Sottas disease , also known as, Dejerine—Sottas neuropathy , progressive hypertrophic interstitial polyneuropathy of childhood and onion bulb neuropathy [1] and, hereditary motor and sensory polyneuropathy type III and Charcot—Marie—Tooth disease type 3 , is a hereditary neurological disorder characterised by damage to the peripheral nerves and resulting progressive muscle wasting. The condition is caused by mutations in a various genes and currently has no known cure. Onset occurs in infancy or early childhood, usually before 3 years of age. Progression is slow until the teenage years at which point it may accelerate, resulting in severe disability. Symptoms are usually more severe and rapidly progressive than in the other more common Charcot—Marie—Tooth diseases.

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