Disease Information for Hereditary dysmyelinating neuropathy

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
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
Associated Diseases & Rule outs
Rule Outs
Diabetic peripheral neuropathy
Associated Disease & Complications
Motor neuropathy
Neonatal Hypotonia/Floppy Baby Syndrome
Peripheral neuropathy
Sensory neuropathy
Ataxia Disorder
Demyelinating Disease
Disease Mechanism & Classification
CLASS/Pediatric disorders (ex)
Pathophysiology/Hereditary Neuropathy
PROCESS/Hereditofamilial (category)
PROCESS/CNS/White matter disorder (ex)

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


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