Edit concept Question Editor Create issue ticket

Dejerine-Sottas Disease

Dejerine-Sottas Syndrome


Presentation

  • The objective of the present work was to describe a case of Dejerine-Sottas disease. A 9-year-old boy presented progressive slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia.[ncbi.nlm.nih.gov]
  • Both parents presented with a typical clinical picture of HNPP. To our knowledge, this is the first patient reported with large deletions involving both PMP22 alleles.[ncbi.nlm.nih.gov]
  • In the present study a new myelin protein zero gene mutation (c.89T C,Ile30Thr) was detected in a family with the Dejerine-Sottas disease phenotype.[ncbi.nlm.nih.gov]
  • A case is presented of Dejerine-Sottas disease in a 12-year-old boy in which clinical signs made diagnosis of Friedreich's ataxia seem plausible.[ncbi.nlm.nih.gov]
  • We present a male patient with Dejerine-Sottas disease phenotype, who had a small direct tandem duplication of the Po gene.[ncbi.nlm.nih.gov]
Heart Block
  • ., Hypertrophic peripheral neuropathy (Dejerine-Sottas disease) associated with heart block. Case report presentation and review of the literature. Jpn Heart J. 1990;31:404-410.[rarediseases.org]
Spine Pain
  • Fenton, MD present Imaging Painful Spine Disorders, the diagnostic companion to Image-Guided Spine Intervention, with 1,400 high-quality radiographic images to help you diagnose common and rare spine pain conditions.[books.google.com]
Suggestibility
  • ABR examination suggested involvement of brain stem at the roots and/or nuclei of the eighth cranial nerve, without involvement of higher structures.[ncbi.nlm.nih.gov]
  • The results strongly suggest that a de novo dominant mutation of the P0 gene is responsible for at least some sporadic cases of Dejerine-Sottas disease.[ncbi.nlm.nih.gov]
  • Electrophysiologic studies suggested a systemic myelinopathic process.[ncbi.nlm.nih.gov]
  • The results suggest an important role for the putative transmembrane domains of PMP22 in its function.[ncbi.nlm.nih.gov]
  • The presence of central involvement in this hereditary neuropathy suggests central as well as peripheral myelin alteration.[ncbi.nlm.nih.gov]
Onset in Infancy or Childhood
  • […] in infancy or childhood and is characterized by extremely slow nerve conduction velocities resulting in loss of ambulatory milestones and more generalized neurologic deficit; 4) HMSN 4, an autosomal recessive inherited demyelinating form that may also[mayomedicallaboratories.com]
Areflexia
  • There was a significantly greater incidence of ataxia, areflexia and clinical nerve enlargement in HMSN type III.[ncbi.nlm.nih.gov]
  • The disease is characterized by an early-onset (i.e. in childhood) demyelinating neuropathy, and usually manifests as gradual progression of distal weakness, sensory loss, and areflexia in the legs.[radiopaedia.org]
  • 67 An Elderly Woman with a Progressive Neuropathy 429 Case 68 A Young Woman with Difficulty Swallowing 433 Case 69 A Young Woman with Intermittent Weakness and a Positive Family History of Similar Problems 436 Case 70 A Woman with Muscle Weakness and Areflexia[books.google.com]
  • […] type demyelinating disorder (OMIM:145900) of early ( age 2) onset, which is characterised by motor and sensory neuropathy with very slow nerve conduction velocities, increased CSF protein concentrations, hypertrophic nerves, delayed age of walking, and areflexia[medical-dictionary.thefreedictionary.com]
Cranial Nerve Involvement
  • Cranial nerve involvement is reportedly seen in 15% of cases. Genetics It is largely inherited as an autosomal recessive condition, with occasional sporadic cases 1.[radiopaedia.org]
  • Cranial nerve involvement is reportedly seen in 15% of cases. Genetics It is largely inherited as an autosomal recessive condition, with occasional sporadic cases 1 .[radiopaedia.org]
  • Cranial nerve involvement is reportedly seen in approximately 15% of cases (1) . MR imaging is considered the technique of choice for determining the extent of CNS involvement.[ajnr.org]
Hyporeflexia
  • A 9-year-old boy presented progressive slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia. Electromyography disclosed significant reduction in motor and sensory nerve conduction velocities.[ncbi.nlm.nih.gov]
  • Neurological examination at the age of 9 years revealed slight motor deficit in the lower limbs, particularly in the feet, and generalized hyporeflexia. There were thickenings of the ulnar and sural nerves.[anestesiarianimazione.com]
Delayed Acquisition of Motor Skills
  • Some of the main symptoms of Dejerine-Sottas disease include: Loss of sensation in the lower legs, arms and feet Weakness of the limbs and arms Deformities in the foot Delayed acquisition of motor skills Mild loss of hearing Limitation in eye movements[kidbones.net]

Treatment

  • Parent-reported quality of life improved for most domains, especially self-esteem, during the 12 months of treatment.[ncbi.nlm.nih.gov]
  • Depending on the particular type of neuropathy, the neurologist may provide treatment for neuropathic pain with a variety of drugs such as gabapentin, amitriptyline and analgesics.[hopkinsmedicine.org]
  • Treatment Treatment is aimed at slowing the progression of the disease. Symptoms and any underlying diseases are also treated to slow down progression.[medigest.uk]
  • CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes.[diseaseinfosearch.org]
  • This network is dedicated to the acceleration of clinical trials in search of effective treatments for SMA.[books.google.com]

Prognosis

  • Treatment and prognosis Unfortunately no effective drug for CMT exists. Treatment is largely supportive with rehabilitation therapy and surgery for skeletal deformities 5.[radiopaedia.org]
  • CMT in pregnancy increases the risk for complications during delivery and a higher risk of intervention. [ 11 ] Prognosis This is dependent on subtype; clinical impairment and disability correlate with axonal loss: Most patients with CMT1A have normal[patient.info]

Etiology

  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]

Epidemiology

  • Epidemiology It is the most common inherited neuromuscular disorder affecting 1 in 2,500 people. [ 1 ] It has no predilection for a particular race or sex.[patient.info]
Sex distribution
Age distribution

Pathophysiology

  • See Hereditary Peripheral Neuropathies Testing Algorithm in Special Instructions Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Inherited peripheral neuropathies are a diverse[mayomedicallaboratories.com]
  • CMT is a heterogeneous disorder with respect to clinical features, neurophysiology, pathophysiology and genetics. The number of identified CMT genes is still expanding.[bmcresnotes.biomedcentral.com]

Prevention

  • Curcumin prevented accumulation and supported release of such proteins from the cell structure. It also attenuated cell death. Similarly in animal model, oral curcumin was found to partially mitigate the severity of the disease.[turmericforhealth.com]
  • You may also be given orthopedic devices, such as braces and splints, to prevent injuries due to weak legs and to increase your stability.[healthline.com]
  • You may need: You may need: Physical and occupational therapy Braces on the lower legs Shoe inserts to correct foot deformity Foot care and routine exams with a foot specialist Surgery Prevention There are no known ways to prevent CMT.[cancercarewny.com]
  • Lightweight lower leg braces, special shoes or shoe inserts can help prevent ankle sprains and maximize independence. Surgery may be suggested to correct foot deformities.[peripheralneuropathycenter.uchicago.edu]
  • Science ‎ Pagina 305 - Silva P (1994) Effects of saline, mannitol, and furosemide to prevent acute decreases in renal function induced by ‎ Pagina 465 - Bennett NT, Schultz GS (1993) Growth factors and wound healing: part II.[books.google.it]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!