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Hereditary Sensory Motor Neuropathy: more detail

Hereditary Motor and Sensory Neuropathy: Webster's Timeline History, 1980 - 2007 by Icon Group International, 2009-04-16

Genetics of hereditary motor and sensory neuropathy and the Costa Rican contribution.(Charcot-Marie-Tooth (CMT)): An article from: Revista de Biología Tropical by Alejandro Leal, 2004-09-01

Charcot-Marie-Tooth Disease: A Practical Guide. Also Known as Hereditary Motor and Sensory Neuropathy and Peroneal Muscular Atrophy. by (No Author), 2000

21st Century Complete Medical Guide to Charcot-Marie-Tooth Disease (CMT), Hereditary Motor and Sensory Neuropathy (HMSN), Peroneal Muscular Atrophy, Authoritative ... for Patients and Physicians (CD-ROM) by PM Medical Health News, 2004-03

Lipidoses: An entry from Thomson Gale's <i>Gale Encyclopedia of Children's Health: Infancy through Adolescence</i> by Tish, A.M. Davidson, Altha Edgren, 2006

lists with details

Resourses
Neuropathies Diagnosis and Treatment of motor Neuropathies hereditary motor sensoryNeuropathies (HMSN) hereditary motor and sensory neuropathy http//www.neuro
http://sargon.mmu.ac.uk/RESORC14.HTM
Baylor Neurology Case Of The Month
causes (HIV, Lyme, leprosy), HNPP (hereditary neuropathy with predisposition to typicallypresents with asymmetrical motor and sensory involvement and
http://www.bcm.tmc.edu/neurol/challeng/pat26/summary.html

Extractions: Diagnosis: Multifocal Motor Neuropathy with conduction block Patient #26 presented with slowly progressive asymmetrical limb weakness, atrophy, and fasciculations without evidence of sensory or upper motor neuron involvement. The pattern of weakness was primarily distal, and cranial nerves were not affected. These findings indicate a lower motor neuron syndrome or asymmetrical motor neuropathy. The differential diagnosis includes the various causes of motor neuron disease, chronic inflammatory demyelinating neuropathy, motor neuropathies, and mononeuritis multiplex. CIDP usually causes a symmetrical, distal, sensorimotor neuropathy primarily affecting the legs (though arms may be prominently affected, and proximal involvement is not unusual). Sensory symptoms are extremely common, and sensory signs are almost universal. However, rare cases of motor involvement without significant sensory signs have been described. In most cases, however, the motor involvement is symmetrical at onset and throughout the course of the disease. The clinical course is progressive with episodes of relapse. Reflexes are universally decreased and often absent. These features argue against CIDP as the cause of neuropathy in this case. The EMG/NCV findings also argue against CIDP, as motor conduction velocities are markedly slowed even in areas without conduction blocks in CIDP findings not present in this case. Mononeuritis multiplex (multiple mononeuropathies) may be caused by diabetes mellitus, vasculitis, sarcoidosis, infectious causes (HIV, Lyme, leprosy), HNPP (hereditary neuropathy with predisposition to pressure palsies), multiple nerve tumors (neurofibromatosis), and perineuromas. Clinically, mononeuritis multiplex typically presents with asymmetrical motor and sensory involvement and variable involvement of reflexes. It would be highly unusual for mononeuritis multiplex to present as a pure motor syndrome, as in this case. The long course of the disease without other accompanying features would also be highly unusual for any of the causes of multiple mononeuropathies.
HIV Report May 2001 - Sensory Neuropathy In HIV/AIDS
lower CD4 count, and concurrent causes of neuropathy including diabetes mellitus,prior cancer chemotherapy, and hereditary sensory motor polyneuropathies.
http://www.hopkins-aids.edu/publications/report/may01_2.html

Extractions: Pathophysiology Risk Related to Specific ART Agents Treatment of HIV-Associated and Dideoxynucleoside-Associated Toxic Sensory Neuropathy "There is no more lively sensation than that of pain; its impressions are certain and dependable..." Marquis de Sade, 1791 Sensory neuropathy occurring in the context of HIV/AIDS has become a frequent complication, particularly in patients treated with dideoxynucleoside antiretrovirals. Sensory neuropathy not only affects the quality of life, but is frequently under-treated, even by expert HIV providers. Increasingly, the occurrence of HIV associated sensory neuropathy limits the choice of HAART regimens by excluding the use of dideoxynucleosides. In addition, the development of neuropathic symptoms, or even the fear of sensory neuropathy, may reduce adherence with antiretrovirals. Finally, peripheral neuropathy may actually be an early marker of mitochondrial dysfunction, which is now believed to contribute to the development of lipodystrophy, lactic acidosis, and other toxicities. Clinical Characteristics Neurology . 1998;52:607]. Other risk factors include age, the presence of wasting syndrome, lower CD4 count, and concurrent causes of neuropathy including diabetes mellitus, prior cancer chemotherapy, and hereditary sensory motor polyneuropathies.
A Case Of Motor Sensory Neuropathy
COMMENT Although the clinical and EMG evidence for hereditary sensory and motorneuropathy is overwhelming , the degree of neurogenic atrophy present in this
http://neuro-www.mgh.harvard.edu/forum/MovementDisordersF/8.23.984.52PMAcaseofMo

Extractions: My sister, Chhavi Agarwal, born 18th July,1979 is suffering from a neurological disorder which even the best neurologists in India have not been able to diaganose exactly. They have called it hereditary motor sensory neuropathy although they have not been able to match all the manifestations with any other previously known case. I would request you to spare a little of your precious time to study her case and suggest any remedies or further investigations. I shall feel highly indebted for your kind gesture.
32
Mental functions, cranial nerves and motor system were normal. Autosomal recessivesensory neuropathy. HSAN type III. . hereditary anhidrotic sensory neuropathy.
http://www.slmaonline.org/cmj/CMJ4501/32.htm

Extractions: An 8-year old boy with a painless non-healing ulcer of the left foot of6 months' duration. He was the second of two children from a non-consanguineous marriage. His birth history and developmental milestones were normal. At 5 years of age, his parents noticed recurrent ulcers and callosities in his feet, from which he did not complain. He was also noted not to sweat as much as his sibling. There was no history of self- mutilation or recurrent pyrexia. His parents and elder brother were healthy.
Charcot-Marie-Tooth Disease (hereditary)
neuropathic (peroneal) muscular atrophy; hereditary peroneal nerve dysfunction;neuropathy peroneal (hereditary); hereditary motor and sensory neuropathy.
http://www.pennhealth.com/ency/article/000727.htm

Extractions: Disease Injury Nutrition Poison ... Prevention Definition: Charcot-Marie-Tooth disease defines a group of slowly progressive, inherited disorders that result from progressive damage to nerves. In addition to loss of sensation, there is wasting of muscle tissue in the feet and legs, then hands and arms. Causes, incidence, and risk factors: Charcot-Marie-Tooth diseases involve damage to nerves (neuropathy), usually from demyelination or loss of the electrical insulation around nerve fibers. All nerves are affected, but motor nerves are disproportionately so. The nerves in the legs are affected first and most severely. Symptoms usually begin between mid-childhood and early adulthood. The disorder is inherited, with autosomal dominant and recessive as well as X-linked recessive inheritance patterns. At least four genes have been discovered to be the cause of this group of diseases.
Volume 103 January - December 1980
The clinical features of hereditary motor and sensory neuropathy types I and II.AE . Harding and PK . Thomas. Pages 259 280. Part of the OUP Brain WWW service.
http://www3.oup.co.uk/jnls/supplements/braini/hdb/Volume_103/Issue_02/1030259.sg
Volume 109 January - December 1986
hereditary motor and sensory neuropathy type II. Clinicopathologicalstudy of a family. J . Berciano , O . Combarros , J . Figols
http://www3.oup.co.uk/jnls/supplements/braini/hdb/Volume_109/Issue_05/1090897.sg
Muscular Dystrophy Campaign Hereditary Motor And Sensory Neuropathies (HMSN)
The term hereditary motor and sensory neuropathy (HMSN) is used to describe a groupof conditions which give rise to weakness and wasting of the muscles below
http://www.muscular-dystrophy.org/information/KeyFacts/hmsn.html

Extractions: David N Russell (Sometimes known as Charcot-Marie-Tooth Disease or Peroneal muscular atrophy) December 2000 From an original written by the late Prof Anita Harding MD, FRCP and revised by Dr D.Hilton-Jones MD, FRCP, for the Muscular Dystrophy Campaign. What are hereditary motor and sensory neuropathies? The term hereditary and sensory neuropathy (HMSN) is used to describe a group of conditions that give rise to weakness and wasting of the muscles below the knees and often those of the hands. Many affected people also have a loss of feeling in the hands and feet, and this is the ÔsensoryÕ component. The term neuropathy refers to the fact that it is the peripheral nerves (which connect the spinal cord to the muscles, joints and skin, carrying messages in both directions), which do not function normally. As the name implies, these are inherited disorders. Many different names have been used to describe HMSN in the past, and this is rather confusing. They are often referred to as peroneal muscular atrophy, because the peroneal muscle on the outside of the calves are particularly affected. Another commonly used name is Charcot-Marie-Tooth disease, after the three neurologists who first described the condition in 1886. Other names include Dejerine-Sottas disease and hereditary hypertrophic neuropathy. HMSN is now the preferred term, largely because Charcot-Marie-Tooth disease and peroneal muscular atrophy are more general terms used to describe a wider group of conditions including one form of spinal muscular atrophy.
Arch Pediatr Adolesc Med -- Page Not Found
neuropathy in childhood. Phenomenal progress in molecular genetics has led to thediscovery of the genes for the common forms of hereditary motor and sensory
http://archpedi.ama-assn.org/issues/v154n10/ffull/pbk1000-3.html

Extractions: The page you requested was not found. The JAMA Archives Journals Web site has been redesigned to provide you with improved layout, features, and functionality. The location of the page you requested may have changed. To find the page you requested, click here HOME CURRENT ISSUE PAST ISSUES ... HELP Error 404 - "Not Found"
Hereditary Motor And Sensory Neuropathy
hereditary motor and sensory neuropathy. A resource with information on over4000 medical topics including hereditary motor and sensory neuropathy.
http://www.bloodandmarrowtransplant.com/medical-terms/01934.htm
Familial Infantile Myasthenia : Confusio...
Translate this page Article, hereditary motor and sensory neuropathy-Lom (HMSNL) in a Spanish family clinical, electrophysiological, pathological and genetic studies.
http://www.cidg.com/~marienf/k/i/n/m019409.htm
CMGS-PMP-22 - One Gene, Two Syndromes/19.11.98
or diminished. High arched feet (pes cavus) are often present. Alsodescribed as hereditary and motor sensory neuropathy (HMSN).
http://www.ich.ucl.ac.uk/cmgs/pmp22.htm

Extractions: Keywords: CMT1A, HNPP, duplication, deletion, gene dosage First described in 1886 by Charcot and Marie in Paris, France and Tooth in Cambridge, England. Most common inherited disorder of the peripheral nerves affecting 1 in 2500 individuals in their 20s and 30s. Characterised by distal muscle atrophy and weakness, first involving the legs and particularly the peritoneal muscles. Sensory loss may be present but is always less pronounced than muscle weakness, and tendon reflexes are absent or diminished. High arched feet (pes cavus) are often present. Also described as Hereditary and Motor Sensory Neuropathy (HMSN). Studies of several cohorts of CMT patients elucidated the association between clinical phenotypes, modes of inheritance electrophysiological findings and pathological features. Extended pedigrees showed that these phenotypes bred true in families. Several subtypes of inherited peripheral neuropathies were delineated and classified as:
PROFESSIONAL REFERENCE Allergy Immunlogy Cardiology Dermatology
with sensory loss, Vasculitis hereditary neuropathy with predisposition weakness withoutsensory loss, Upper Generalized multifocal motor neuropathy (MMP), Bulbar
http://merck.praxis.md/bpm/bpmtables.asp?page=BPM01NE12&table=BPM01NE12T07
Dental Guidelines
in 1951. According to the current classification system, hereditary peripheral neuropathiesare divided into hereditary motor and sensory neuropathy (HMSN) and
http://www02.so-net.ne.jp/~tomorrow/en2/guidel.htm

Extractions: Dental Guidelines Japanese Ministry of Health and Welfare Study on a Good Rearing System for High Risk Children Study on Care of Children with Motor Disorders Masakazu Ikeda, DDS, PhD (Department of Dentistry, Kanagawa ChildrenÕs Medical Center) Kenji Nihei, MD (Department of Neurology, National Center for Child Health and Development) INTRODUCTION Sensory neuropathy with anhidrosis is a hereditary disease characterized mainly by insensitivity to pain, anhidrosis (an abnormal deficiency of sweat), and mental retardation. It is said that this disorder was first reported by Nishida et al. in 1951. According to the current classification system, hereditary peripheral neuropathies are divided into hereditary motor and sensory neuropathy (HMSN) and hereditary sensory and autonomic neuropathy (HSAN). As such, this disorder comes under HSAN type 4. Thus far, approximately 100 cases have been reported in Japan. Recently, Indo et al.(1996) reported that defects in TRKA(a receptor tyrosine kinase for nerve growth factor -NGF) causes this disease. The insensitivity to pain is attributable to a lack of small myelinated and unmyelinated nerve fibers which conduct pain impulses. The sweat deficiency results from a lack of peripheral sympathetic end-fibers which innervate blood vessels surrounding the sweat glands.
Disease
hereditary Peripheral Neuropathies. hereditary motor and sensory neuropathy (CharcotMarie-Toothdisease) This is the most common type of inherited neuropathy.
http://www.bgsm.edu/neurology/department/diagneuro/Disease.html

Extractions: Muscle Diseases (Myopathy) Dermatomyositis (DM): DM is an auto immune muscle disease which occurs in children and adults. The cardinal sign of this disorder is the presence of a rash commonly over the upper chest and back or shoulders. Occasionally, a purplish (heliotrope) discoloration is present over the eyelids. Along with the rash, muscle weakness in the hips and shoulders is noted. The disease develops over weeks to months. The cause is unknown but involves inflammation of the blood vessels in the skin and muscle. Diagnosis is clinical with supportive evidence from blood levels of muscle enzymes ( CK or creatine kinase ), and EMG findings. Many people undergo muscle biopsy for a definitive diagnosis. The disease responds well to oral steroids but is sometimes resistant and may require treatment with azathioprine or IVIG Polymyositis (PM) PM is similar to DM but doesn't have the rash. Symptoms develop over weeks to months in most cases. The cause is usually unknown but occasionally, PM and DM are associated with cancer or rheumatoid conditions. Treatment is similar to that of DM. Drug-induced myositis: Several medications may lead to muscle damage. These include certain cholesterol lowering agents, colchicine, and ipecac.
CMTNEWS
hereditary motor and sensory neuropathy with Diaphragm and Vocal CordParesis. Research with Linda. Thomas D. Bird, MD, Chief, Neurology
http://www.cmtnews.com/Vocal Cord Paralysis/JA - HMSN with Diaphragm and Vocal C

Extractions: HOME About this site Advisors to this site Aging ... HOME Hereditary Motor and Sensory Neuropathy with Diaphragm and Vocal Cord Paresis Research with Linda Thomas D. Bird, M.D., Chief, Neurology (VA Medical Center); Professor, Neurology and Medical Genetics (University of Washington Medical School) and one of our advisors, sent a journal article on to us titled Hereditary Motor and Sensory Neuropathy with Diaphragm and Vocal Cord Paresis by Peter James Dyck, MD; William H. Litchy, MD; Sharon Mennerath, BS, Thomas D. Bird, MD; Phillip E. Chance, MD; Daniel J. Schaid, PhD and Arnold El Aronson, PhD.
CMTNEWS
Respiratory Muscle Dysfunction in hereditary motor sensory neuropathy,Type 1. Archives of Internal Medicine 1988/Vol.14817391740.
http://www.cmtnews.com/breathing/breathingpage11.html

Extractions: The International Ventilator Users Network (IVUN) has a regular newsletter linking ventilator users with each other and with health care professionals interested in home mechanical ventilation. To join send $8 US or $10 Cdn.or overseas to: Gazette International Networking Institute, 51 Oakland Ave. #206, St. Louis, MO 63110-1406, USA There is an interesting publication out called Ventilators: Alternatives for Long-term and Home Use: A manual for people who are considering the long-term use of ventilator at home. A copy costs $15 plus add $5 in the US and Canada and $10 elsewhere for shipping and handling. Cheques in US funds to:
Hereditary Neuropathy With Liability To Pressure Palsies
features of HNPP are described and contrasted with hereditary neuralgic amyotrophyby HNPP is characterized by recurrent sensory and motor neuropathy in a
http://www.geneclinics.org/profiles/hnpp/details.html

Extractions: 27 June 2001 Disease characteristics. HNPP is a disorder of peripheral nerves in which individuals are predisposed to repeated pressure neuropathies such as carpal tunnel syndrome and peroneal palsy with foot drop. Recovery from acute neuropathy is often complete; when recovery is not complete, the resulting disability is usually mild. Some affected persons also have signs of a mild to moderate peripheral neuropathy. Diagnosis/testing. The diagnosis of HNPP is established in an adult with recurrent focal compression neuropathies who has a family history consistent with autosomal dominant inheritance. Molecular genetic testing for a contiguous gene deletion of chromosome 17p11.2 that includes the gene detects about 80% of patients. The remaining 20% of patients have a variety of point mutations in that may lead to frameshifts or other functional changes in the protein. Clinical testing is available for both deletions and frameshift mutations.
Charcot-Marie-Tooth Hereditary Neuropathy Overview
The CMT phenotype also called hereditary motor/sensory neuropathy (HMSN) consistsof motor and sensory neuropathy in the absence of other systemic findings
http://www.geneclinics.org/profiles/cmt/details.html

Extractions: 28 March 2003 Disease characteristics. Charcot-Marie-Tooth (CMT) hereditary neuropathy refers to a group of disorders characterized by a chronic motor and sensory polyneuropathy. The typical patient has distal muscle weakness and atrophy often associated with mild to moderate sensory loss, depressed tendon reflexes, and high-arched feet. The CMT hereditary neuropathies are categorized by mode of inheritance and causative gene or chromosomal locus. Diagnosis/testing. The genetic neuropathies need to be distinguished from the many causes of acquired (non-genetic) neuropathies. Clinical diagnosis is based on family history and characteristic findings on physical examination, EMG/NCV testing, and occasionally on sural nerve biopsy. Molecular genetic testing is available in clinical laboratories for diagnosis of CMT1A , chromosomal locus 17p11.2), CMT1B (MPZ , chromosomal locus 1q22), CMT2E (NEFL , chromosomal locus 8p21), and CMTX , chromosomal locus Xq13.1), CMT1D

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