Dejerine-Sottas Disease (DS)
16:54 Posted by Ahmed Khalil
| Dejerine-Sottas is a disease of the peripheral nervous system caused by defects in the genes for proteins found in the protective insulating myelin sheath around the nerves, resulting in eventual loss or thinning of the sheath and subsequent loss of conductivity in the peripheral nerves. First described in the 1890s by Joseph Jules Dejerine (a student of Jean-Martin Charcot) and Jules Sottas (student of Dejerine), Dejerine-Sottas disease was later reclassified as Charcot-Marie-Tooth disease (CMT) Type 3, a rare subtype, because the two diseases have been linked to different defects in the same genes.(CMT is named after the three physicians who first described it in 1886 — Jean-Martin Charcot and Pierre Marie of France, and Howard Henry Tooth of the United Kingdom. Although most people have never heard of CMT, it affects some 115,000 Americans.) As researchers attempt to create a coherent classification scheme for neuromuscular diseases, Dejerine-Sottas has also sometimes come to be known as Hereditary Motor Sensory Neuropathy Type III. Some researchers argue that it is really a variant of CMT Type I instead of its own subtype. (With both the name and classification still a subject of debate, it is perhaps unsurprising that little useful research into the disease has been done.) Dejerine-Sottas differs from other forms of CMT in that it is marked by early onset (infancy), severe distal weakness, and faster progression. Children with DS acquire motor milestones slowly, and some never gain the ability to walk. Others begin walking at preschool age or later, but many require Because CMT causes damage to sensory axons, most people with CMT have a decreased sensitivity to heat, touch and pain in the feet and lower legs. Paradoxically, some people with CMT experience more pain instead, from a combination of muscle cramps and neuropathic pain. Sensory loss may also cause hearing impairment or deafness. Dejerine-Sottas does not generally affect the central nervous system, heart, or respiratory muscles, although there are exceptions. Full expression of CMT's clinical symptoms generally occurs by age 30. Though currently there is no cure or specific treatment for CMT, CMT is not a fatal disease and the disorder does not usually affect normal life expectancy. Physical therapy and moderate activity are often recommended to maintain muscle strength and endurance. |
| Drug warnings |
| The use of certain prescription drugs or excess alcohol can lead to acquired neuropathy, and thus might exacerbate CMT. Case studies have shown that the chemotherapy drug vincristine can cause rapid deterioration in people with CMT. For more information about drugs to avoid, please see page 2. |
| Anesthetic concerns |
| Though anesthesia is not contradicted, it is assumed there is a slightly elevated risk of malignant hyperthemia because Dejerine-Sottas is a neuromuscular disease. Anesthetic agents that do not trigger MH should be used whenever possible. The surgical team be well versed in neuromuscular disorders and preferably well practiced in doing surgery on such patients. Patients with Dejerine-Sottas seem to take slightly longer to wake up from general anesthetics, and should be kept warm during surgery and in the recovery room as they are less able to regulate their temperatures.People with muscle disorders may have more fragile muscles, subject to breaking down under stress. The stress of surgery itself, of lying in an awkward position with one part of the body pressing on another (necessary in some procedures), of having a tourniquet applied during an operation, of experiencing postoperative shivering, may all contribute to complications in some patients, experts say. |
| Search for a Cure |
| The genetics revolution has started to provide insights into the causes of Dejerine-Sottas, and scientists hope to soon begin treating Dejerine-Sottas with gene therapy, neurotropic factors, stem cells, or a combination of the three. |
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