1. 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

Advertisement Welcome to Med Help International A not-for-profit organization Questions in The Neurology Forum are being answered by doctors from The Cleveland Clinic , consistently ranked one of the best hospitals in America. Subject: Hereditary Sensory Motor Neuropathy Questions Topic Area: Autonomic Forum: The Neurology and Neurosurgery Forum Question Posted By: Maureen on Saturday, May 31, 1997 Posted by ccfNeuro MD on June 04, 1997 at 14:51:25: In Reply to: Hereditary Sensory Motor Neuropathy Questions posted by Maureen on May 31, 1997 at 09:49:35: : 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.

2. 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

Advertisement Welcome to Med Help International A not-for-profit organization Questions in The Neurology Forum are being answered by doctors from The Cleveland Clinic , consistently ranked one of the best hospitals in America. Subject: Hereditary Sensory Motor Neuropathy Questions Forum: The Neurology and Neurosurgery Forum Topic Area: Posted by Maureen on May 31, 1997 at 09:49:35: 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.

3. 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

Advertisement Welcome to Med Help International A not-for-profit organization Questions in The Neurology Forum are being answered by doctors from The Cleveland Clinic , consistently ranked one of the best hospitals in America. Subject: Hereditary Sensory Motor Neuropathy Questions Forum: The Neurology and Neurosurgery Forum Topic Area: Posted by Maureen on May 31, 1997 at 09:49:35: 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.

4. 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

Abstract , Date , Session G , Podium , 8:15a Hereditary auditory, vestibular, and sensory motor neuropathy due to a chromosome 8 disorder *D. Butinar (Universiy of Ljubljana); B.J.B. Keats (Louisiana State University); Y.S. Sininger (House Ear Institute); A. Starr (University California-Irvine) Supported by National Institutes of Health, DC-02618

5. 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

Home Contact Us *Volunteers/Researchers* Welcome to Neuropathy Research Section Range of Medicinal Oils. 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 Nov’98 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.

6. 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

Home Contact Us *Volunteers/Researchers* Welcome to Neuropathy Research Section Range of Medicinal Oils. Improvements with 'Neuro G Therapy' in Chronic Neuropathies 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." Center for Developmental Disorders and Complementary Medicines, 1215, Bhavani Peth, Palkhi Chowk, Pune 411042,India. Fax : 0091-20-6342869, Phone 0091-20-6355511. E Mail : gunvant@pn2.vsnl.net.in 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

7. 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/

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

8. 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

Final Diagnosis Tomaculous Neuropathy Clinical discussion: 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.

9. 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 Official Health Sourcebooks Conditions or Treatments A B C D ... Z Search: H. FLU MENINGITIS related to INFLUENZA H. FLU MENINGITIS related to MENINGITIS H. INFLUENZA MENINGITIS related to INFLUENZA H. INFLUENZA MENINGITIS related to MENINGITIS HABIT SPASMS HAEMOPHILUS INFLUENZAE HAEMOPHILUS INFLUENZAE SEROTYPE B HAEMOPHILUS VAGINALIS related to BACTERIAL VAGINOSIS HAEMOPHILUS VAGINALIS related to FOODBORNE ILLNESS HAEMOPHILUS VAGINALIS related to VAGINITIS HAEMOPHILUS VAGINITIS related to BACTERIAL VAGINOSIS HAEMOPHILUS VAGINITIS related to VAGINITIS HAIRY CELL LEUKEMIA HALLERVORDEN-SPATZ DISEASE HALLERVORDEN-SPATZ SYNDROME HALLOPEAU-SIEMENS DISEASE ... HEAD AND NECK CANCER related to LARYNGEAL CANCER HEAD AND NECK CANCER related to METASTATIC SQUAMOUS NECK CANCER WITH OCCULT PRIMARY HEAD LICE INFESTATION HEART FAILURE HEBERDEN'S SYNDROME HEINRICHSBAUER SYNDROME ... HEMANGIOBLASTOMA related to ADULT BRAIN TUMORS HEMANGIOBLASTOMA related to CHILDHOOD BRAIN STEM GLIOMA HEMANGIOBLASTOMA related to CHILDHOOD BRAIN TUMORS HEMANGIOBLASTOMA related to CHILDHOOD EPENDYMOMA HEMATOCELE HEMATURIA HEMATURIA - NEPHROPATHY - DEAFNESS HEMATURIA, BENIGN, RECURRENT

10. 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

ICON Group Browse - Health Health Publications A B C D ... back

11. 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/

Common Foot Problems It is not normal for anyone to have foot pain. The old adage "When your feet hurt, you hurt all over" is true. There are many causes of foot pain. We have listed some of the more common ones below. All of these problems are treatable. Find out more in the What We Do section. 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.

12. 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

window.location="http://www.ortho.hyperguides.com/"; Surgical Correction of the Cavus Foot Mark S. Myerson, MD Introduction Radiographic Examination Surgical Reconstruction Introduction The evaluation of a patient with a cavus or cavovarus foot begins with reviewing the patient’s 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)

13. 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

The GAPS INDEX to Information on the Internet about Genetic Disorders and Birth Defects Genetic Information and Patient Services, Inc. (GAPS) HOME DISORDERS GLOSSARY Definitions of Genetic Disorders beginning with the letter H Click on the link next to the disorder to view its definition. H Disease hartnup.htm H. Gottron's Syndrome gottron.htm H. Gottron's Syndrome acroger.htm Habit Spasms HAE herang.htm Hageman Factor Deficiency hfd.htm Hageman factor hfd.htm Haim-Munk Syndrome cochin.htm Hajdu-Cheney Syndrome haj.htm Hajdu Cheney hdct.htm HAL Deficiency histid.htm Hall-Pallister Syndrome pallhall.htm Hallermann-Streiff-Francois syndrome hss.htm Hallermann-Streiff Syndrome hss.htm Hallervorden-Spatz Disease hallervor.htm Hallervorden-Spatz Syndrome hallervor.htm Hallopeau-Siemens Disease epidbullo.htm Hallux Duplication Postaxial Polydactyly and Absence of Corpus Callosum acrocall.htm Halushi-Behcet's Syndrome behcets.htm

14. 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

Previous Next Author Index 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.

15. H Hereditary Angioedema; @ Hereditary DeafnessRetinitis Pigmentosa; @hereditary sensory motor neuropathy; @ Hereditary Sensory Neuropathy http://www.ad.com/Health/Conditions_and_Diseases/H/

search Top Categories: Hailey-Hailey Disease @ Hair Loss @ Hairy Leukoplakia @ Halitosis ... @ Hypothyroid AD.COM Web Directory is based on ODP - Open Directory Project data. No proprietary software was used in the development of this web site. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

16. 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

17. 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

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Conditions and Diseases : H Description Browse by Alphabets A B C D ... Z Categories Hailey-Hailey Disease Hair Loss Hairy Leukoplakia Halitosis ... Hypothyroid Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: 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

18. 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

ORIGINAL ARTICLE Progressive Limb Weakness and Sensory Loss in a Young Woman Hannah Glass , B.A., Myriam Srour , B.Sc., Giovanna Pari , M.D., F.R.C.P.(C.), 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 (

19. HSN hereditary sensory motor neuropathy with Ulceromutilation Dominant;sensory motor; hereditary sensory-motor neuropathy with http://www.neuro.wustl.edu/neuromuscular/time/hsn.htm

Front Search Index Links ... Patient Info HSN Disorder Gene Chromosome Inheritance Clinical features I Dominant Small axon loss Acromutilation II Recessive III IKBKAP Recessive Riley-Day Syndrome IV TRKA/ NGF receptor Recessive Congenital sensory neuropathy with anhidrosis C-axon loss V Recessive Congenital absence of pain without anhidrosis A d -axon loss Biemond congenital anaesthesia Dominant Large fiber sensory loss Ataxic neuropathy Dominant Large fiber sensory loss Ataxia Hereditary sensory neuropathy with a -galactosidase (Fabry's) An- a ... -lipoproteinemia (Tangier's) Ataxia telangectasia Friedreich's ataxia Mitochondrial disorder Maternal: NARP Recessive: Cytopathy Multiple symmetrical lipomatosis Posterior column ataxia + Retinitis pigmentosa ... Spastic paraparesis Hereditary Neuropathies with Ulcero-mutilation HSAN I : Dominant; Sensory HMSN 2B : Dominant; Sensory + Motor Hereditary Sensory-Motor Neuropathy with Ulcero-mutilation Recessive axonal CMT with acrodystrophy Also see: Neurogenic osteoarthropathies (Charcot's joints) l desert hedgehog (DHH) ; Chromosome 12q12-q13.1; Sporadic (Recessive)

20. 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

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. THE DIFFERENTIAL DIAGNOSIS OF PES CAVUS AND LOWER LEG WASTING INCLUDES: HMSN Old polio infection Friederich's ataxia Spina bifida CLINICAL FEATURES 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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