Disease Information for Neuropathy, hypertrophic interstitial

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Clinical Manifestations
Signs & Symptoms
Leg/lower extremity pains
Weak/Weak as a kitten (symptom)
Anesthetic hypesthetic limbs/areas
Ankle reflexes decreased
Ataxia
Glove/stocking hypesthesia
Hypesthesia
Hyporeflexia/DTRs decreased
Leg reflexes, bilateral decrease
Loss of pain of temperature sensation
Motor and sensory neuropathy/Polyneuropathy signs
Nerve trunk/enlarged, palpable
Paresthesias
Sensory Ataxia
Staggering Gait
Symmetric Polyneuropathy
Unable to tandem walk/straight line
Weak reflexes
Weakness/Diffuse motor loss
Enervated/extreme acute fatigue
Weakness
Disease Progression
Course/Chronic disorder
Course/Chronic only
Course/Progressive
Course/Progressive/slowly chronic illness
Onset/Childhood
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Family History
Family history/Nerve disease
Sex & Age Groups
Population/Child
Population/Children/all
Population/Infant
Laboratory Tests
Abnormal Lab Findings - Increased
URINE Casts/Protein casts
Diagnostic Test Results
Pathology
BX/Nerve biopsy onion bulb connective tissue
BX/Nerve biopsy/abnormal
BX/Nerve biopsy/Schwann cell hyperplasia
BX/Nerve biopsy/segmental demyelination
BX/Nerve biopsy/Sural nerve/abnormal
BX/Nerve biopsy/Thin myelination
Electrodiagnosis
EMG/NCS Abnormal NC Time
EMG/NCS Slowing
Nerve Conduction Study Abnormal ENG
Associated Diseases & Rule outs
Associated Disease & Complications
Charcot neuroarthropathic joint
Motor neuropathy
Nephritis tubulointerstitial
Nephritis, interstitial
Neuropathy
Neuropathy, hypertrophic hereditary interstitial
Peripheral neuropathy
Polyneuritis
Sensory neuropathy
Ataxia Disorder
Demyelinating Disease
Polyneuropathy
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus 10q21.1-q22.1
Pathophysiology/Gene locus 17p11.2
Pathophysiology/Gene locus 19q13.1-q13.2
Pathophysiology/Gene locus 1q22
Pathophysiology/Gene locus Chromosome 1
Pathophysiology/Gene locus Chromosome 10
Pathophysiology/Gene locus Chromosome 17
Pathophysiology/Gene locus chromosome 19
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Sporadic/hereditary/process
Pathophysiology/Delayed nerve conduction velocity
Pathophysiology/Demyelination
Pathophysiology/Hereditary Neuropathy
Pathophysiology/Maternal Chromosome mutation
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Genetic disorder/Spontaneous mutations/sporadic
PROCESS/Hereditofamilial (category)
PROCESS/Hypertrophic/Hyperplastic disorder (ex)
PROCESS/Hereditory motor/sensory neuropathy (ex)
Synonyms
Synonym
CHARCOT MARIE TOOTH DISEASE DEMYELINATING TYPE 4F, CHARCOT MARIE TOOTH DISEASE TYPE 3, CMT3, CMT4F, Dejerine Sottas, Déjerine Sottas, DEJERINE SOTTAS DIS, Dejerine Sottas Disease, Déjérine Sottas disease, Dejerine Sottas disease (disorder), Déjérine Sottas disease (disorder), Dejerine Sottas neuropathic, Déjerine Sottas neuropathic, DEJERINE SOTTAS NEUROPATHY, DEJERINE SOTTAS SYNDROME, Disease Dejerine Sottas, DSN, DSS, Hered motr sens neuropathy III, Hereditary hypertrophic neuropathy, HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE III, HEREDITARY MOTOR SENSORY TYPE IJ NEUROPATHY, Hereditary sensory motor neuropathy type 3, Hereditary sensory motor neuropathy type III, Hereditary Type III Motor and Sensory Neuropathy, HEREDITARY TYPE III MOTOR SENSORY NEUROPATHY, HMSN III, HMSN Type III, HMSN3, HSMN III, Hypertroph demyel neurop infan, Hypertroph heredit neuropathy, Hypertrophic demyelinative neuropathy of infancy, Hypertrophic hereditary neuropathy, hypertrophic neuropathic Dejerine Sottas, hypertrophic neuropathic Déjerine Sottas, HYPERTROPHIC NEUROPATHY OF DEJERINE SOTTAS, neuropathy Dejerine Sottas, neuropathy Déjerine Sottas, neuropathy hypertrophic Dejerine Sottas, neuropathy hypertrophic Déjerine Sottas, neuropathy hypertrophic interstitial progressive, Neuropathy of infancy Dejerine Sottas, Progressive hypertrophic interstitial neuropathy, Synonym/Acute tubulointerstitial nephritis syndrome, Synonym/Dejerine-Sottas disease, Synonym/Hereditary motor-sensory neuropathy type III, Synonym/HMSN Type III, Synonym/HSMN type III, Synonym/Hypertrophic interstitial neuritis, Synonym/Onion-bulb neuropathy, Synonym/Progressive hypertrophic neuropathy, Synonym/Radiculoneuropathy, hypertrophic interstitial
Treatment
Drug Therapy - Indication
SX/Nerve biopsy
Definition

Dejerine Sottas Disease; Hereditary Motor Sensory Neuropathy Type III, HSMN Type III; Hypertrophic Interstitial Neuritis; Hypertrophic Interstitial Neuropathy; Hypertrophic Interstitial Radiculoneuropathy;

Onion-Bulb Neuropathy; Dejerine-Sottas disease is an inherited neurological disorder that progressively affects mobility; Peripheral nerves become enlarged or thickened leading to muscle weakness; Progress of the disorder is irregular and often accompanied by pain, weakness, numbness, and a tingling, prickling or burning sensation in the legs; Many people with Dejerine-Sottas disease continue to lead active lives; Most neurologists now consider this disorder to be one of 5 types of hereditary motor sensory neuropathy (HMSN) which simply means genetically transmitted disorder of the nerves associated with movement; Dejerine-Sottas disease is one of several that comprise Type III and in which the protective sheath around the long nerves breaks down (demyelination) for unknown reasons exposing and endangering the nerve; The nerves are enlarged due to an accumulation of connective tissue that may present in the form of "onion-bulbs"; ----------- [NORD 2005] ------Also AKA Gombault’s degeneration or demyelination; ombault"s neuritis; Gombault’s syndrome; Neuritis hypertrophica, progressive and hypertrophic interstitial neuritis of infants, hypertrophic interstitial neuritis, hypertrophic interstitial polyneuritis, hypertrophic interstitial neuropathy, hypertrophic neuritis syndrome, nitrite interstitially hypertrophique progressive (French), progressive hypertrophic interstitial neuritis, segmental demyelination; A slowly progressive hereditary form of hypertrophic neuritis characterised by motor and sensory disturbance in the extremities commencing in childhood or adolescence, with numbness, paresthesia, cramps, and lancinating pain in the extremities, followed by muscle weakness and clawing of the hands and deformities of the feet; Affected muscles show decreased responsiveness to electric stimulation; The nerve roots are thickened and show characteristic «onion bulb» histological changes (Schwann-cell hypertrophy); Ocular complications include myosis, nystagmus, anisocoria, papillotonia, and optic atrophy; The disturbance is believed to be transmitted as an autosomal dominant trait

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NEJM (The New England Journal of Medicine)
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