Disease Information for Hereditary dysmyelinating 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
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
Demographics & Risk Factors
Population Group
Child
Associated Diseases & Rule outs
Rule Outs
Diabetic peripheral neuropathy
Associated Disease & Complications
Motor neuropathy
Neonatal Hypotonia/Floppy Baby Syndrome
Peripheral neuropathy
Polyneuritis
Sensory neuropathy
Ataxia Disorder
Demyelinating Disease
Polyneuropathy
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Demyelination
Pathophysiology/Hereditary Neuropathy
Process
PROCESS/Hereditofamilial (category)
PROCESS/CNS/White matter disorder (ex)
Definition

Neuropathy, Congenital Hypomyelination; CHN; Congenital Dysmyelinating Neuropathy; Congenital Hypomyelinating Polyneuropathy; Congenital Hypomyelination; Congenital Hypomyelination (Onion Bulb), Polyneuropathy; Congenital Hypomyelination Neuropathy; Congenital Neuropathy caused by Hypomyelination; Hypomyelination Neuropathy; Congenital Hypomyelination Neuropathy is a neurological disorder present at birth. Major symptoms may include respiratory difficulty, muscle weakness and incoordination, poor muscle tone, absence of reflexes, difficulty in walking, and/or impaired abilities to feel or move part of the body; [NORD]

------------------------------------------------------.Congenital Hypomyelinating Neuropathies; Chromosome 1q22; Recessive; Clinical: Severe generalized weakness & wasting; Arthrogryposis ; Onset: Birth; Course: Severe cases: Death before 3 months ;Milder cases: Static weakness; Increased disability with growth; Electrodiagnostic: Demyelinating: Very slow NCV; No conduction block ;Similar to HMSN III (Djerine-Sottas); Pathology: Thin or absent myelin sheaths around axons;Congenital hypomyelinating neuropathy other type: CMT4E; Chromosome 10q21.1-q22.1; Dominant or Recessive; Gene : Protein: Zinc finger; Clinical: onset: Infantile hypotonia ; Weakness: Diffuse; Distal > Proximal; Ambulation ± walker; Wasting: Diffuse; Nerve conduction velocities: 3 to 8 M/s ; Nerve pathology; Myelin: Absent or greatly reduced on most axons; Onion bulbs: Occasional; Axonal loss: Mild to moderate; Most patients asymptomatic; Electrodiagnostic testing ;Nerve conduction velocities: Uniform slowing; CMAPs: Normal amplitude; SNAPs: Normal or mildly reduced amplitude; Similar values at all ages: ? Non-progressive; Pathology: Nerve: Hypomyelination ; reduced number of myelinated axons: 50% of normal; Size of remaining myelinated axons: 2 to 6 ìm; Axonal sheath: Thin for axon diameter; Onion bulbs: Rare ; muscle: Mild denervation changes

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