Disease Information for Hereditary neuropathy

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Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Tongue Protrudes Infant
Delay Sitting Unsupported Infant
Mouth Hangs Open Infant
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
Ataxia
Babkin infant sign/Abnormal
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Infant Head Support Delay
Moro reflex Poor/Absent Infant
Motor and sensory neuropathy/Polyneuropathy signs
Nerve trunk/enlarged, palpable
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Rooting infant sign/Abnormal
Sensory Ataxia
Staggering Gait
Swimming infant reflex/Abnormal
Symmetric Polyneuropathy
Tonic Neck Infant reflex/Abnormal
Shallow Breathing Infant
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Associated Diseases & Rule outs
Rule Outs
Alcohol polyneuritis
Diabetic peripheral neuropathy
Peroneal muscular atrophy/Charcot Marie Tooth
Associated Disease & Complications
Ataxic neuropathy
Autonomic neuropathy
Motor neuropathy
Neonatal Hypotonia/Floppy Baby Syndrome
Painful neuropathy
Peripheral neuropathy
Polyneuritis
Sensory neuropathy
Ataxia Disorder
Polyneuropathy
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Gene locus 10q23.2
Pathophysiology/Gene locus 12q24
Pathophysiology/Gene locus 12q24-qter
Pathophysiology/Gene locus 9q22.1-q22.3
Pathophysiology/Gene locus 9q31
Pathophysiology/Gene locus Chromosome 10
Pathophysiology/Gene locus chromosome 12
Pathophysiology/Gene locus Chromosome 9
Pathophysiology/Gene Locus Identified/OMIM database
Pathophysiology/Genomic indentifiers (polymorphism/snip/mutations)
Pathophysiology/Hereditary disease/Adult manifestations
Pathophysiology/Hereditary Neuropathy
Pathophysiology/Inherited Biochemical Neuropathy
Process
PROCESS/Hereditofamilial (category)
Synonyms
Synonym
hereditary neuropathy, Inherited neuropathies, Inherited Neuropathy, neuropathy hereditary, Synonym/Neuropathy Okinawa type hereditary var
Treatment
Drug Therapy - Indication
SX/Nerve biopsy
Definition

Hereditary Sensory, Type II; Acroosteolysis, Giaccai Type; Acroosteolysis, Neurogenic; Congenital Sensory Neuropathy; HSAN II ; Hereditary Sensory Radicular Neuropathy, Autosomal Recessive; Hereditary Sensory and Autonomic Neuropathy, Type II (HSAN Type II); Morvan Disease; Neuropathy, Progressive Sensory, of Children; Radicular Neuropathy, Sensory, Recessive; Sensory Radicular Neuropathy, Recessive; The hereditary sensory neuropathies (HSN) include 4-6 similar but distinct inherited degenerative disorders of the nervous system (neurodegenerative) that frequently progress to loss of feeling, especially in the hands and feet; Some types of HSN are related to or identical with some forms of Charcot-Marie-Tooth disorder, and others are related to or identical with familial dysautonomia (Riley-Day syndrome). The classification of the HSNs is complicated, and the experts do not always agree on it; Hereditary sensory neuropathy type II (HSN2) is a rare genetic disorder that usually begins in childhood by affecting the nerves that serve the lower arms and hands and the lower legs and feet (the peripheral nerves); Symptoms start with inflamed fingers or toes especially around the nails. Infection is common and worsens as ulcers (open sores) form on the fingers and on the soles of the feet; The loss of sensation in both hands and feet often leads to neglect of the wounds; This can become serious, even leading to amputation in extreme cases, so it is important to care for any such wounds; The disorder affects many of the body’s systems, is characterized by early onset (infancy or early childhood) and is transmitted genetically as an autosomal recessive trait; [NORD]

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External Links Related to Hereditary neuropathy
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PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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