Disease Information for Giant axonal neuropathy, hereditary

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Clinical Manifestations
Signs & Symptoms
Distal Muscle Weakness
Ataxia
Hyporeflexia/DTRs decreased
Sensory Ataxia
Staggering Gait
Symmetric Polyneuropathy
Demographics & Risk Factors
Population Group
Child
Associated Diseases & Rule outs
Associated Disease & Complications
Peripheral neuropathy
Sensory neuropathy
Ataxia Disorder
Disease Mechanism & Classification
Pathophysiology
Pathophysiology/Hereditary Neuropathy
Process
PROCESS/Hereditofamilial (category)
Definition

Neuropathy, Giant Axonal; ; GAN; Giant axonal neuropathy is a rare hereditary motor and sensory neuropathy (HSMN) that severely affects the central nervous system; The first symptoms appear in early childhood; This disorder is characterized by abnormalities in the peripheral and central nervous systems including low muscle tone (hypotonia), muscle weakness, decreased reflexes, impaired muscle coordination (ataxia), seizures and mental retardation; Pale, tightly curled hair is frequently seen in those affected; Giant axonal neuropathy follows autosomal recessive genetic inheritance; [NORD]-----------------------------.an inbred Tunisian kindred, Ben Hamida et al (1990) described a form of giant axonal neuropathy distinct from the usual variety (256850), because of no abnormality of hair, slow progression, and an unusual clinical picture in which the sensorimotor neuropathy was associated with multisystem degeneration including a motor neuron syndrome; Three males and 3 females in 4 sibships were affected;. The propositus, a 53-year-old man, presented with progressive infantile onset, distal amyotrophy of 4 limbs, brisk reflexes, diffuse fasciculations, bulbar signs, and deep sensory loss in both lower limbs; Muscle biopsy showed typical hypertrophic neuropathy; In 4 patients, there were giant axons filled with neurofilaments, with normal conduction velocity; The youngest patient, a 4-year-old girl (the abstract states that it was a boy), had mild neurologic deficit, and nerve biopsy showed only a few unmyelinated axons filled with neurofilaments;Clinical Synopsis:Chronic polyneuropathy;

Multisystem degeneration; Motor neuron syndrome; Distal amyotrophy of limbs; Brisk reflexes; Diffuse fasciculations;

Bulbar signs; Deep sensory loss in legs; Infantile onset

Slow progression; Ultrastructurally, axons are greatly enlarged and packed with masses of tightly woven neurofilaments; Muscle biopsy shows hypertrophic neuropathy

Inheritance Autosomal recessive [OMIM]

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