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Autosomal Dominant Hereditary Sensory and Autonomic Neuropathy


  • His research focuses on understanding the variation in the clinical presentations of amyotrophic lateral sclerosis/motor neuron disease (ALS/MND) and finding biomarkers for them.[books.google.com]
  • Sequencing of MFN2 should be considered in all patients presenting with late-onset HSAN.[ncbi.nlm.nih.gov]
  • Multiple scars and superficial erosions were present over the legs and dorsa of both hands [Figure 3] and [Figure 4]. The skin over palms and soles was mildly hyperkeratotic. Her hairs and nails were normal and no joint deformities were present.[ijpd.in]
  • Deep nontender ulcer of 3 3cm size with hyperkeratotic edges was present on the plantar aspect of right sole at the base of second toe and great toe.[e-ijd.org]
  • Oral manifestations may be the presenting complaint. Thus, it is important for the clinicians to be familiar with the condition. The present article provides a brief review of the condition and its insinuation in dentistry.[indianjpain.org]
Episodic Pain
  • pain SCN 11A 3p22 Dominant Congenital Absence of pain Hyperhidrosis; GI Δ None Absent pain, Congenital Recessive Congenital, or Early childhood Absence of pain No anhidrosis Aδ VIII: Absent pain, & temperature Congenital PRDM12 9q33 Recessive Congenital[neuromuscular.wustl.edu]
  • Reviewing the full spectrum of clinically significant neuropathies, the book contains chapterson common and rare forms including mononeuropathy in the upper and lower extremities, mononeuritismultiplex, diffuse and symmetric polyneuropathies, brachial[books.google.com]
  • Mononeuropathy Damage to a single peripheral nerve is called mononeuropathy. Physical injury or trauma such as from an accident is the most common cause.[webmd.com]
  • For example, some disorders involve single individual peripheral nerves— mononeuropathies —and some involve numerous individual peripheral nerves, the mononeuritis multiplex syndrome.[clevelandclinicmeded.com]
  • Asymmetric mononeuropathy develops in typical compression sites (peroneal, ulnar, median, radial nerve) due to injury, or under mild compression. The symptoms improve within a few weeks or months.[tankonyvtar.hu]
  • These self-mutilations may be found in all types of recessively inherited hereditary sensory and autonomic neuropathies and are attributed to loss of pain sensation, neglect of injury, excessive surgery, and indifferent personality. Fig. 1.[anesthesiology.pubs.asahq.org]


  • Given these findings, along with prior negative workup, a neurology consult was obtained, and the patient was diagnosed with HSAN. The blisters were unroofed, and local wound care resulted in ultimate improvement of these lesions ( Figure 2 ).[avensonline.org]
Abnormal X-Ray of the Hand
  • Complete hemogram, urinalysis, chest X-ray, fundoscopy, pure tone audiometry revealed no abnormality. X-ray of right hand revealed acro-osteolysis of terminal phalanx of right middle finger.[e-ijd.org]


  • Walsh, along with a multi-disciplinary team of contributors guide you through the sweeping developments in diagnosis and treatment of the mother fetus, and neonate.[books.google.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • […] and prognosis No specific treatment is available for CIP 1,7.[radiopaedia.org]
  • The supportive treatment is generally provided by a multidisciplinary team including neurologists, orthopedic surgeons, physical and occupational therapists; with treatment choices limited to physical therapy, the use of orthotics, surgical treatment[bcbst.com]


  • Correct clinical assessment and genetic confirmation of the diagnosis are important for appropriate genetic counselling and prognosis.[orpha.net]
  • […] reported the following features 9 : acro-osteolysis within the first year of life (100%) limb fractures with prominent periosteal reaction and exuberant callus (100%) osteomyelitis (50%) brain volume loss with mild ventriculomegaly (50%) Treatment and prognosis[radiopaedia.org]
  • Parents should talk to their own or their children’s physician and medical team about their specific case, associated symptoms and overall prognosis.[rarediseases.org]
  • What is the Prognosis of Hereditary Sensory Neuropathy Type II? (Outcomes/Resolutions) The prognosis of Hereditary Sensory Neuropathy Type II is good with appropriate treatment.[dovemed.com]
  • Prognosis If patients with HSN I receive appropriate counselling and treatment, the prognosis is good. Early treatment of foot infections may avoid serious complications. Also the complications are manageable, allowing an acceptable quality of life.[ojrd.biomedcentral.com]


  • Etiology HSN I is a genetically heterogenous condition with three loci and mutations in two genes ( SPTLC1 and RAB7 ) identified so far. Diagnostic methods Diagnosis is based on the clinical observation and is supported by a family history.[orpha.net]
  • The etiology and pathogenesis of CIP depends on the specific type of HSAN. For example: HSAN2D (channelopathy-associated congenital insensitivity to pain) : patients have homozygous mutations in the SCN9A gene 4,7.[radiopaedia.org]
  • With a systematic approach to the evaluation of these disorders, approximately 75% of patients have a specific etiologic diagnosis.[clevelandclinicmeded.com]
  • (Etiology) The cause of Hereditary Sensory Neuropathy Type II is a recessive mutation in either the WNK1 gene on chromosome 12 (A), the FAM134B gene on chromosome 5 (B), the KIF1A gene on chromosome 2 (C), or in the SCN9A gene on chromosome 2 (D).[dovemed.com]
  • Several demyelinating etiologies can produce a “Dejerine-Sottas” phenotype with early onset, palpable nerves, and marked onion-bulb formation.[now.aapmr.org]


  • Summary Epidemiology The exact prevalence is unknown, but is estimated as very low. Clinical description Disease onset varies between the 2nd and 5th decade of life.[orpha.net]
  • Relevant External Links for ATL1 Genetic Association Database (GAD) ATL1 Human Genome Epidemiology (HuGE) Navigator ATL1 Atlas of Genetics and Cytogenetics in Oncology and Haematology: ATL1 No data available for Genatlas for ATL1 Gene Mutations in the[genecards.org]
  • Several epidemiological studies were completed, the prevalence was found between 10.8/100.000 (Japan) and 40/100.000 (USA) (usually 1:2500-5000).[tankonyvtar.hu]
  • Epidemiology Hereditary sensory neuropathy type I (HSN I) constitutes a clinically and genetically heterogenous group of disorders of low prevalence. No detailed epidemiological data are currently available.[ojrd.biomedcentral.com]
  • Epidemiology including risk factors and primary prevention HMSN is the most common inherited neuromuscular disease with overall prevalence of approximately 1/2500 and incidence 15/100,000 in the general population.[now.aapmr.org]
Sex distribution
Age distribution


  • Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Inherited peripheral neuropathies are a relatively common diverse group of disorders with heterogeneous genetic causes.[mayomedicallaboratories.com]
  • Pathophysiology The pathophysiology of autonomic neuropathies is variable and depends upon the underlying medical conditions. We have chosen to classify the autonomic neuropathies into hereditary and acquired.[emedicine.medscape.com]
  • Back to Top Pathophysiology and Natural History Despite the diverse array of medical disorders that cause peripheral neuropathies, peripheral nerves exhibit only a few distinct pathologic reactions to an insult or disease: wallerian degeneration, axonal[clevelandclinicmeded.com]
  • „New insights into the pathophysiology of pes cavus in Charcot-Marie-Tooth disease type 1A duplication.” J Neurol, 2011;258: 1594-602. Berciano J, Sevilla T, Casasnovas C, Sivera R, Vílchez JJ, Infante J, Ramón C, Pelayo-Negro AL, Illa I.[tankonyvtar.hu]


  • Prevention of secondary complications: Regular dental examinations and restriction of sweets to prevent dental caries; early treatment of dental caries and periodontal disease to prevent osteomyelitis of the mandible.[en.wikipedia.org]
  • After treatment of ulcers, prevention of recurrent fool ulcers with comfortable shoes is most important. [3] We report here two brothers, one 17 years and another 14 years old, who started developing callosities at age of 9-10 years and later developed[ijdvl.com]
  • Currently, there are no specific methods or guidelines for the prevention of Hereditary Sensory Neuropathy Type II, since it is a genetic condition Genetic testing of the expecting parents (and related family members) and prenatal diagnosis (molecular[dovemed.com]
  • Management focuses on lifestyle and education interventions with an aim of preventing further injuries, and in quickly identifying and treating injuries if they do occur 1, 6,7. Promoted articles (advertising)[radiopaedia.org]
  • Intraoperative management is directed towards maintainingcardiovascular stabilityand prevention of pulmonary aspiration.Aspiration prophylaxis and rapid sequence induction are indicated.[ijaweb.org]

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