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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

Hereditary Sensory Motor Neuropathy Questions
Subject hereditary sensory motor neuropathy Questions Topic Area Autonomic ForumThe Neurology and Neurosurgery Forum Question Posted By Maureen on Saturday
http://www.medhelp.org/forums/neuro/archive/540.html

Extractions: : I have an HSMN called HNPP (Hereditary neuropathy with liability to pressure palsies). It is a relatively rare demeliniatng neuropathy and the nerves are described as tomaculous. Entrapment is typical (carpal and cubital tunnel, thoracic outlet and the evquivalent syndromses in the legs). A distinguishing feature is numbess/weakness which lasts fro minutes to months caused byu situations which would not cause problems in a "normal" person. One needs to learn to avoid situations that cause symptoms. There is no treatment. I have had symptoms for more than 15 years and have led a fairly normal life up until a couple of years ago. There had been periods where symptoms werre better and worse. Therre was a very slow progression where it took less to cause symptoms.
Hereditary Sensory Motor Neuropathy Questions
Subject hereditary sensory motor neuropathy Questions Forum The Neurology andNeurosurgery Forum Topic Area Posted by Maureen on May 31, 1997 at 094935
http://www.medhelp.org/forums/neuro/archive/489.html

Extractions: I have an HSMN called HNPP (Hereditary neuropathy with liability to pressure palsies). It is a relatively rare demeliniatng neuropathy and the nerves are described as tomaculous. Entrapment is typical (carpal and cubital tunnel, thoracic outlet and the evquivalent syndromses in the legs). A distinguishing feature is numbess/weakness which lasts fro minutes to months caused byu situations which would not cause problems in a "normal" person. One needs to learn to avoid situations that cause symptoms. There is no treatment. I have had symptoms for more than 15 years and have led a fairly normal life up until a couple of years ago. There had been periods where symptoms werre better and worse. Therre was a very slow progression where it took less to cause symptoms. A few years ago, I had a traumatic injury to one nerve, causing mostly pain, and that seemed to set the neuopathy off into a fasirly rapid decline. I have pain, numbness and motor problems (foot drop, difficulty writing, dropping things, etc) , in all 4 limbs, which seems to vary in intensity day to day. It's getting harder to walk and climb stairs. And while having sensations of numbness, I also have an exaggerated response to pin pricks, etc.
Hereditary Sensory Motor Neuropathy Questions
The Neurology and Neurosurgery Forum ask the doctor medical forum for patients hosted by Med Help Intl. Subject hereditary sensory motor neuropathy Questions. Forum The Neurology and Neurosurgery Forum
http://www.medhelp.org/perl6/neuro/archive/489.html

Extractions: I have an HSMN called HNPP (Hereditary neuropathy with liability to pressure palsies). It is a relatively rare demeliniatng neuropathy and the nerves are described as tomaculous. Entrapment is typical (carpal and cubital tunnel, thoracic outlet and the evquivalent syndromses in the legs). A distinguishing feature is numbess/weakness which lasts fro minutes to months caused byu situations which would not cause problems in a "normal" person. One needs to learn to avoid situations that cause symptoms. There is no treatment. I have had symptoms for more than 15 years and have led a fairly normal life up until a couple of years ago. There had been periods where symptoms werre better and worse. Therre was a very slow progression where it took less to cause symptoms. A few years ago, I had a traumatic injury to one nerve, causing mostly pain, and that seemed to set the neuopathy off into a fasirly rapid decline. I have pain, numbness and motor problems (foot drop, difficulty writing, dropping things, etc) , in all 4 limbs, which seems to vary in intensity day to day. It's getting harder to walk and climb stairs. And while having sensations of numbness, I also have an exaggerated response to pin pricks, etc.
1999; Hereditary Auditory, Vestibular, And Sensory Motor Neuropathy Due To A Chr
families (Bulgarian, Italian) with hearing loss and hereditary sensory motor neuropathy. We were able to refine the
http://www.aro.org/archives/1999/214.html
G Therapy - Case Studies
Case No 5 hereditary sensory motor neuropathy Axonal Demyelinating.Omkar Shetye is a 8 Years old boy with hereditary sensori
http://www.g-therapy.org/neurologycs5.htm

Extractions: Omkar Shetye is a 8 Years old boy with hereditary sensori motor neuropathy with deafness and has one elder sister who is very similarly affected. He was seen at our center in Nov98 and started on Neuro G-Therapy. One month after therapy few NCV improvements were noted. On Examination: Head circumference 50.5 cm. Marked squint both eyes. No abnormal facies or dermo - glyphics. Pes planus, feet are narrow and small, 3rd toe of both feet hypotrophic. Scratch marks and injuries all over lower limb and upper limb- suggesting a sensory component. CNS Examination : Alert Cooperative. Smiles, imitates action. Understanding/ Intelligence is fair if due concessions are made for his deafness and no special training. Investigations Before Neuro G-Therapy : November 1994 : Diffuse sensory neuropathy.
G Therapy - Case Studies
Case No 5 hereditary sensory motor neuropathy Axonal Demyelinating. Hereditarysensory motor neuropathy, 8 Years Since birth, Nov 98. Gen.
http://www.g-therapy.org/neurologyhome.htm

Extractions: Please Note: "The intention of putting the original lab. reports and the opinions of the neurologists is just for the sake of providing objective information to visiting or viewing researchers about this research study. This in my opinion will help further research in the field of Neuropathy and Neurology." Web Site : www.g-therapy.org Neuro G Therapy is a combination of potentised herbal extracts, biochemical tissue salts and minerals in energy activated form. Introduction: Research Progress: I have been working mainly with developmental disabilities besides a few cases of dystonias, adult stroke, dementia and neuropathies. I have
Diseases - Search
CharcotMarie-Tooth Disease (CMT), hereditary sensory motor neuropathy (HSMN),Peroneal muscular atrophy (PMA), Neuropathy with focally folded myelin sheaths
http://www.rehabinfo.net/resources/diseases/list/

Extractions: NIDRR Rehabilitation Research and Training Center in Neuromuscular Diseases (RRTC/NMD) Search Site Path: Home resources diseases list March 30, 2003 [ Sorted by Name ] Sort by Search Term Search for keywords: A B C D ... Acid Maltase Deficiency Glycogenosis type II, Pompe disease, Glycogen storage disease II, Generalized glycogenosis, Lysosomal alpha-glucosidase deficiency, Amyotrophic Lateral Sclerosis Motor neuron disease, Familial amyotrophic lateral sclerosis (FALS), ALS, Lou Gehrig's disease, Becker Muscular Dystrophy (BMD) Benign juvenile muscular dystrophy, Progressive tardive muscular dystrophy, Carnitine Deficiency Systemic carnitine deficiency, Muscle carnitine deficiency, Renal reabsorption of carnitine defect, Central Core Disease (CCD) Muscle core disease, Muscular central core disease, Central fibrillar myopathy, Shy-Magee syndrome, Central core disease of muscle, Central core myopathy, Charcot-Marie-Tooth Disease (CMT) Hereditary sensory motor neuropathy (HSMN), Peroneal muscular atrophy (PMA), Neuropathy with focally folded myelin sheaths, Congenital hypomyelinating neuropathy, Congenital Fiber-type Disproportion (CFTD) Atrophy of Type I fibers, Myopathy of congenital fiber-type disproportion, CFTDM
Diagnosis Case 15
The differential diagnosis of the peripheral neuropathy presented in this case includesa form of hereditary sensory motor neuropathy (HMSN), vasculitis, and
http://sprojects.mmi.mcgill.ca/neuropath/case15/15diag.htm

Extractions: Physical examination in HNPP often reveals weakness and sensory loss attributable to a specific nerve distribution. However, if the disease is advanced and many nerves are affected, findings may be generalized as in the patient above, thereby mimicking a distal sensorimotor peripheral neuropathy, such as CMT-I. The symptoms would then include a decrease in distal limb reflexes, weakness and wasting of the intrinsic muscles of the hand and foot, and a decreased vibration sense. The nerve conduction studies in HNPP usually show a widespread polyneuropathy. Motor and sensory conduction abnormalities are found not only in affected nerves, but also in those that are clinically normal. Unaffected nerves show prolongation of distal latency, mild slowing of conduction velocities, and reduced amplitude. Affected nerves show segmental slowing or block, especially at entrapment sites. There is a decrease in amplitude of the compound muscle action potential when the nerve is stimulated proximal to the block. Needle EMG studies are normal in clinically unaffected nerves. In mild cases, the EMG shows a reduction in voluntarily activated motor unit potentials. In severe cases, signs of active denervation such as increased insertional activity or fibrillation potentials are more prominent. Microscopy discussion The muscle biopsy of this patient demonstrated a number of features consistent with a denervation-reinnervation process: variation in muscle fiber size, large sheets of smaller diameter fibers, and fiber-type grouping. The nerve biopsy showed a shift to smaller diameter nerve fibers, which corresponds to the slowed velocities seen on nerve conduction studies. As is characteristic in HNPP, both affected and unaffected nerves of the patient showed areas of myelin thickening (tomaculae) that are particularly convincing in the teased nerve fiber preparations.
ICON Health Publications -- Home Page
motor sensory neuropathy i, hereditary nephritis, hereditary peroneal nerve dysfunction,hereditary sensory motor neuropathy, hereditary spastic paraplegia
http://www.icongrouponline.com/health/healthH.html
ICON Health Publications -- Index
Hereditary Motor Sensory Neuropathy. Hereditary Motor Sensory NeuropathyI. hereditary sensory motor neuropathy. Hereditary Spastic Paraplegia.
http://www.icongrouponline.com/browse/Health/healthH.html
Absolute Foot Care : Common Foot Problems
This is commonly associated with Diabetes, but can also be related to hereditarycauses called HSMN (hereditary sensory motor neuropathy), Alcoholism, Heavy
http://www.absolutefootcare.com/foot_problems/

Extractions: Arch problems: Arch pain can be caused by foot that has no arch flat foot (pes planus) or a high arch (pes cavus). It is important that anyone with either of these foot types be evaluated to be sure there is no underlying problem that may give rise to more serious problems later in life. It is most important that any child with a flat or high arch foot be evaluated. Ninety percent of adult foot problems can be prevented if they are diagnosed in a child's foot. Bunion: An enlargement of the big toe joint. They can be mild, moderate, or severe. The most common cause is an abnormal motion of the foot called pronation (a turning in of the inside part of the arch area, which then tends to flatten out, this will "loosen the bones of the foot," and eventually in some people lead to a bunion deformity. They are hereditary, and can be prevented in some patients. It is very important that they be treated, if left untreated they will eventually interfere with the quality of life and will affect walking and standing, as well as back problems.
Surgical Correction Of The Cavus Foot
Frequently, patients are unaware of a cavus foot and may present for a manifestationof a hereditary sensory motor neuropathy (eg, CharcotMarie-Tooth disease
http://ortho.hyperguides.com/Tutorials/foot_ankle/surgical_correction/tutorial.a

Extractions: The evaluation of a patient with a cavus or cavovarus foot begins with reviewing the patients history. Frequently, patients are unaware of a cavus foot and may present for a manifestation of a hereditary sensory motor neuropathy (e.g., Charcot-Marie-Tooth disease). In the United States, hereditary sensory motor neuropathy is the most common cause of cavovarus foot deformity. Often, an identifiable cause or family history is unknown and the diagnosis is idiopathic cavus foot. The examination commences with an overall evaluation of the following: Family history of high arches Any systemic illness Any feeling of muscle weakness or tripping A sense of ankle instability or giving way of the ankle Activities of daily living, particularly occupation and athletics Location of discomfort, pain, or symptoms located in the foot Types of treatment attempted (e.g., surgery, orthosis, or braces)
Definitions Of Genetic Disorders-H.
article/001387.htm. hereditary sensory motor neuropathy (CMT) http//www.stepstn.com/nord/rdb_sum/261.htm.Hereditary Spastic Paraplegia
http://www.icomm.ca/geneinfo/def-h.htm
Untitled
Fr.132.P. hereditary sensory motor neuropathy in a Floppy Infant. E.Artacho, (1);. 1) Hospital Verge del Toro, Mahón (menorca), Spain;.
http://www.isprm.org/abstracts/amsterdam/page161.html

Extractions: Page 161 Fr.131.P Application of a Chinese Designed Partial Body Weight Supporting System on gait training J. Li, (1); Y. Fan, (2); J. Fan, (2); 1) Nanjing Medcial University, Nanjing, China; 2) Qianjing Rehabilitation Equip, Changzhou, China; Partial body weight support (PBW) training is a new practice in gait training. This is to report application of a Chinese designed PBW in gait training in 30 non-ambulatory patients with lower limb paralysis (20 post-stroke and 10 spinal cord injury). All patients started on standing balance training and then walking training using the PBW device. Body weight lifting varied from 50% to 20% according to patient's response at different stage of training. The walking training was on a treadmill with gradually increased speed. All patients respond well to the device and resumed ambulatory without walking aides after 4 weeks training. The training duration to resume ambulatory was 20% shorter than our previous data. Therapist's work load also reduced significantly. No complications found during this period. Conclusion: The Chinese designed PBW device is applicable to the gait training for patients with lower limb paralysis.
H
Hereditary Angioedema; @ Hereditary DeafnessRetinitis Pigmentosa; @hereditary sensory motor neuropathy; @ Hereditary Sensory Neuropathy
http://www.ad.com/Health/Conditions_and_Diseases/H/
ETenet - Library
. leg muscles. It also known as hereditary sensory motor neuropathy,and peroneal muscular atrophy (PMA). (Back to Top).
http://www.etenet.com/Apps/Library/Corporate.asp?ID=633
1Up Health > Health Links Directory > Conditions And Diseases: H
Hereditary DeafnessRetinitis Pigmentosa (5) hereditary sensory motor neuropathy(5) Hereditary Sensory Neuropathy Type III (8) Hereditary Spastic Paraplegia (6
http://www.1uphealth.com/links/conditions-and-diseases-h.html

Extractions: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory
Progressive Limb Weakness And Sensory Loss In A Young Woman [MJM 1999 5:85-89]
From the clinical presentation, the differential diagnosis of the peripheral neuropathyincludes a form of hereditary sensory motor neuropathy (HMSN), a
http://www.mjm.mcgill.ca/issues/v05n02/v05p085/v05p085main.htm

Extractions: George Karpati , M.D., F.R.C.P.(C.), and G. Jackson Snipes , M.D., Ph.D. E-mail: jsnipes@mni.lan.mcgill.ca Neuromuscular Research Group, Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University. INTRODUCTION THE CASE pes cavus (exaggeration of the arch of the foot) and hammer toes. Power testing revealed mild weakness in the distal upper extremities (intrinsic hand muscles 4/5 bilaterally) and in the proximal lower extremities (quadriceps and hamstrings 4/5 bilaterally), as well as significant weakness in the distal lower extremities (tibialis anterior 1/5 bilaterally). Tendon reflexes were normal except for the ankle jerks, which were absent bilaterally. The plantar response was inflexion. There was markedly impaired sense of vibration and joint position in the feet. There was a diminution of sensitivity to light touch in the legs to the inguinal area bilaterally. Superficial pain sensation was absent in a stocking distribution over the legs up to the level of the knees and over the hands up to the wrists bilaterally. The cerebellar examination was within normal limits. Figure 1 ). Myosin ATPase histochemistry showed that there was a moderate degree of grouping of both type I and type II myofibers (
HSN
hereditary sensory motor neuropathy with Ulceromutilation Dominant;sensory motor; hereditary sensory-motor neuropathy with
http://www.neuro.wustl.edu/neuromuscular/time/hsn.htm
Clinical Neurosciences - Hereditary Motor And Sensory Neuropathy
hereditary motor sensory neuropathy (HMSN) Peroneal muscular atrophy; CharcotMarie-Tooth disease; Roussy-Levy syndrome; Dejerine-Sottas disease
http://medweb.bham.ac.uk/http/depts/clin_neuro/teaching/tutorials/hmsn/hmsn.html

Extractions: Synonyms Peroneal muscular atrophy; Charcot-Marie-Tooth disease; Roussy-Levy syndrome; Dejerine-Sottas disease HMSN is the commonest cause of the peroneal muscular atrophy syndrome consisting of distal leg muscle wasting and weakness, usually with a pes cavus foot deformity. HMSN Old polio infection Friederich's ataxia Spina bifida The characteristic clinical features include distal wasting of the lower limb muscles (the so-called 'inverted champagne bottle' appearance). The feet show pes cavus and clawing of the toes, with weakness of the feet extensors. The ankle jerks are absent and the plantar reflexes show no response (occasionally they can be extensor). Palpable nerve thickening is found in about 25% of cases and is specific for the demyelinating forms of HMSN. The patient may have a 'high stepping gait' due to bilateral foot drop. There may be wasting of the small muscles of the hand. In general, the presenting symptoms are due to difficulty walking or a foot deformity. The inheritance is usually autosomal dominant, but recessive forms also occur. The video clip (video not ready yet) shows some of these clinical features in 2 affected brothers.

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