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  • neurologist
  • A specialist called a neurologist may diagnose Charcot-Marie-Tooth after doing a complete neurological exam and asking about your family history. (hopkinsmedicine.org)
  • It is very important to learn as much as you can about your disease, and work closely with your neurologist. (hopkinsmedicine.org)
  • The promising data from the animal testing and especially the already proven compatibility of with humans, promote Lecithin as a therapeutic agent for the Charcot-Marie-Tooth disease as well as possibly for similar demyelinating diseases," adds Michael Sereda, a neurologist at the Department of Clinical Neurophysiology and group leader at the Max-Planck-Institute, who directed the study. (medicalxpress.com)
  • neurologists
  • CMT is named for the three neurologists who first described it, and does notinvolve the teeth in any way. (faqs.org)
  • cavus
  • Factors considered influential in the development of pes cavus include muscle weakness and imbalance in neuromuscular disease, residual effects of congenital clubfoot, post-traumatic bone malformation, contracture of the plantar fascia, and shortening of the Achilles tendon. (wikipedia.org)
  • Among the cases of neuromuscular pes cavus, 50% have been attributed to Charcot-Marie-Tooth disease, which is the most common type of inherited neuropathy with an incidence of 1 per 2,500 persons affected. (wikipedia.org)
  • The development of the cavus foot structure seen in Charcot-Marie-Tooth disease has been previously linked to an imbalance of muscle strength around the foot and ankle. (wikipedia.org)
  • muscle weakness
  • Although in rare cases, individuals may have respiratory muscle weakness, CMT is not considered a fatal disease and people with most forms of CMT have a normal life expectancy. (nih.gov)
  • weakness and muscle atrophy
  • Later in the disease, weakness and muscle atrophy may occur in the hands, resulting in difficulty with carrying out fine motor skills (the coordination of small movements usually in the fingers, hands, wrists, feet, and tongue). (nih.gov)
  • sensation
  • This may be because patients with CMT disease never had normal sensation and, therefore, simply do not perceive their lack of sensation. (medscape.com)
  • Dejerine-Sottas disease is characterized by moderate to severe lower and upper extremity weakness and loss of sensation, which occur mainly in the lower legs, forearms, feet and hands. (wikipedia.org)
  • Treatment
  • Today, only palliative treatment is available - there are as yet no effective therapies for preventing, retarding, or stopping the course of the disease. (innovations-report.com)
  • Therapy studies with diseased rats that were given lecithin in various doses not only showed that a treatment with phospholipids promotes myelination-"It significantly eases the course of the disease regardless of the start of the therapy," explains Ruth Stassart, co-leader of the study. (medicalxpress.com)
  • There are no cures or effective courses of treatment to halt the progression of any form of Charcot-Marie-Tooth disease. (wikipedia.org)
  • nerves
  • At the severe end of the CMT spectrum, the disease can affect nerves other than those that go to and from the extremities. (mda.org)
  • types
  • In 1968, CMT disease was subdivided into two types, CMT 1 and CMT 2, on the basis of pathologic and physiologic criteria. (medscape.com)
  • [ 5 ] CMT disease is divided into several types, as follows. (medscape.com)
  • includes
  • This includes acute lymphocytic leukemia, acute myeloid leukemia, Hodgkin's disease, neuroblastoma, and small cell lung cancer among others. (wikipedia.org)
  • Huntington's
  • Lazzarini is a geneticist, who worked in New Jersey as a genetics counselor and coordinator at Middlesex General-University Hospital's Huntington's Disease Family Service Center, serving individuals with HD and their families. (wikipedia.org)
  • Mutations
  • Mutations in one of the three genes: amyloid beta precursor protein ( APP ), presenilin 1 ( PSEN1 ) or presenilin 2 ( PSEN2 ) can be disease causing. (biomedcentral.com)
  • The involvement of these three genes in AD was discovered more than two decades ago and these mutations only explain a minority of the families with inherited early onset Alzheimer disease (EOAD). (biomedcentral.com)
  • diabetes
  • DALLAS May 20, 2014 A lean "Supermodel" mouse type has revealed the potentially critical role played by a largely unknown gene that regulates metabolism, findings that could provide new insight into diseases ranging from diabetes to obesity, a new study by UTSouthwestern Medical Center researchers suggests. (bio-medicine.org)
  • The implications of the work may be felt in diabetes and obesity research, the study of wasting in chronic disease, the study of muscle cell function, and perhaps other fields. (bio-medicine.org)
  • It can also be caused by muscle, nerve, or joint damage resulting from conditions such as osteoarthritis, rheumatoid arthritis, stroke, Charcot-Marie-Tooth disease, complex regional pain syndrome or diabetes. (wikipedia.org)
  • brain
  • Progressive multifocal leukoencephalopathy is a demyelinating disease ( AIDS defining illness) which affect the brain. (medicalrealm.net)
  • In the early 90s, she was a member of the team studying neurodegenerative syndromes including olivopontocerebellar atrophy (a degeneration of neurons in the brain present in syndromes such as Machado-Joseph disease) and spinocerebellar ataxia (SCA). (wikipedia.org)
  • Congenital
  • Factors considered influential in the development of pes cavus include muscle weakness and imbalance in neuromuscular disease, residual effects of congenital clubfoot, post-traumatic bone malformation, contracture of the plantar fascia, and shortening of the Achilles tendon. (wikipedia.org)
  • Progressive
  • Progressive multifocal leukoencephalopathy is commonly affecting HIV/ AIDS patient ( immunosuppressive disease). (medicalrealm.net)
  • These diseases cause progressive deterioration of the neuron resulting in decreased signal transduction and in some cases even neuronal death. (wikipedia.org)
  • degeneration
  • Neurodengenerative diseases of motor neurons can cause degeneration of motor neurons involved in voluntary muscle control such as muscle contraction and relaxation. (wikipedia.org)
  • protein
  • Many SCAs below fall under the category of polyglutamine diseases, which are caused when a disease-associated protein (i.e., ataxin-1, ataxin-3, etc.) contains a large number of repeats of glutamine residues, termed a polyQ sequence or a "CAG trinucleotide repeat" disease for either the one-letter designation or codon for glutamine respectively. (wikipedia.org)
  • patients
  • One of Lazzarini's patients had located family records the led to a hundreds of individuals in one family encompassing eight generations and including 21 members who had the disease. (wikipedia.org)
  • cases
  • T) was identified in SORL1 which segregated with disease and was further characterized with immunohistochemistry on two post mortem autopsy cases from the same family. (biomedcentral.com)
  • children
  • Every summer, for one week, thousands of children from across the country who have been diagnosed with one of the forty-three muscle diseases covered in MDA's program are able to attend a camp designated for only them. (wikipedia.org)
  • environmental
  • This includes providing therapeutic treatment in circumstances where movement and function are threatened by aging, injury, disease or environmental factors. (wikipedia.org)
  • times
  • Bill Stall, 71, American Pulitzer Prize-winning journalist (Los Angeles Times), complications from pulmonary disease. (wikipedia.org)