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خرید پکیج
تعداد آیتم قابل مشاهده باقیمانده : 3 مورد
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Genetically determined neuropathies

Genetically determined neuropathies
Genetic disorder Basic process Other features Other systems involved
CMT type 1 Demyelinating Hypertrophic change with onion bulbs; severe slowing of conduction velocity in both the motor and sensory nerves --
CMT type 2 Axonal Normal or mildly reduced nerve conduction velocity with decreased amplitude --
Hereditary amyloid polyneuropathies Axonal Small-fiber involvement; endoneurial amyloid deposition In some families: cornea, kidneys, heart
Hereditary sensory neuropathy type I Neuronopathic Dorsal root ganglia neurons selectively involved Sensorineural deafness (some families)
Porphyric neuropathy Axonal Neuropathy part of attacks; may be recurrent Widespread cellular abnormality
Hereditary liability to pressure palsy Demyelinating Tomaculous changes in myelin --
Fabry disease Neuronopathic Sensory neuropathy, small dorsal root ganglia neurons Kidney, skin, lung
CMT 1, X-linked Demyelinating Heterozygote females have symptoms --
Adrenomyeloneuropathy ?Axonal Mild neuropathy, spastic paraparesis, baldness, hypogonadism Adrenal cortex, cerebral white matter, spinal cord
Hereditary sensory neuropathy type II Neuronopathic Dorsal root ganglia neurons selectively involved --
Déjérine-Sottas syndrome Demyelinating Hypertrophic change with onion bulb formation May be mentally retarded
CMT type 4A Demyelinating Hypomyelination --
Refsum disease Demyelinating Hypertrophic change with onion bulb formation Retinitis pigmentosa, ichthyosis, sensorineural deafness
Ataxia-telangiectasia Axonal Neuropathy moderate Cell nuclear aneuploidy, skin and scleral telangiectasia, cerebellar atrophy, immunopathy
Abetalipoproteinemia Neuronopathic Large dorsal root ganglia neurons Retinitis pigmentosa, acanthocytosis of red blood cells
Giant axonal neuropathy Axonal Massive segmented accumulation of neurofilaments in axons Slowly progressive encephalopathy with Rosenthal fibers
Metachromatic leukodystrophy Demyelinating Schwannopathy with cerebroside accumulation Cerebral white matter disease predominates
Friedrich ataxia Axonal Spinocerebellar and corticospinal tracts involved; also primary sensory neurons Cardiomyopathy (usual cause of death)
CMT: Charcot-Marie-Tooth disease
Modified with data from: Fauci AS, Braunwald E, Isselbacher KJ, et al (Eds). Harrison's Principles of Internal Medicine, 14th ed, McGraw-Hill Company, Inc., New York, 1998, p.2460.
Graphic 58391 Version 4.0

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