MICRO
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Most common inherited peripheral neuropathy a refsums

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Most common inherited peripheral neuropathy- a) Refsum’s disease (NBE/DNB Pattern) b) Charcot marie tooth disease-1 c) Farber’s disease d) Fabry disease 256
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Charcot-Marie-Tooth Disease-1 (CMT-1) is the most common hereditary (genetically determined inherited neuropathy. It results from duplication of the gene on chromosome 17 257
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Clinical features of charcot marie Tooth disease : Neuropathy affects both sensory and motor nerves. Characterized by: - Weakness of foot and lower leg muscles. - Foot drop and high steppage gait causing frequent falls. - Foot deformities such as high arches and hammertoes (middle joint of the toe bend upwards). - Lower legs have and “inverted champagne bottle ” appearance. - Onset of symptoms in adolescense or adulthood. 258
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Muscular disorders 259
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Episodic generalized weakness can occur due to all of the following acute electrolyte disturbances, except - (AIIMS May 06) a) Hypokalemia b) Hypocalcemia c) Hyponatremia d) Hypophosphatemia 260
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261
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Episodic generalized weakness can occur due to all of the following acute electrolyte disturbances, except - (AIIMS May 06) a) Hypokalemia b) Hypocalcemia c) Hyponatremia d) Hypophosphatemia B 262
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Episodic muscular weakness is seen (PGl.June 03) a) Decr. K + b) Lambert Eaton syndrome c) Myasthenia Gravis d) Tuberculosis e) Multiple sclerosis A ,B ,C ,E 263
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All of the following area associated with ‘Episodic’ weakness, except- (AI 12) a) Channelopathy b) Lambert Eaten Syndrome c) Hyperphosphatemia d) Hyperkalemia C 264
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Trophic ulcers are seen in a/e- (PGI Dec 2000) a) Polio b) Syringomyelia c) Leprosy d) TB. Meningitis 265
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Trophic Ulcers :- They are d/t impairment of nutrition of tissues which depends upon adequate blood supply and also an improperly functioning nerve supply. The ulcers develop as a result of repeated trauma to the insensitive parts of the body. 266
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Causes of trophic ulcers :- Syringomyelia Leprosy Diabetic Neuropathy Peripheral Neuropathy Tabes Dorsalis Transverse Myelitis Spinal cord injury. 267
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In Subacute combined degeneration of cord only Pyramidal tract & Posterior column are involved. So there is no impairment of sensation, therefore there is less chance of Trophic ulcer. 268
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Tropical ulcer are usually associated with peripheral neuropathy because of the sensory loss seen in peripheral neuropathy. Analgesia of the limbs makes them susceptible to burns, pressure sore and other forms of injury that are easily infected and heal poorly. The skin of the limb becomes tight and shiny and the nails curved and ridged and the subcutaneous tissue thickened {tropic changes). 269
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Trophic ulcers are seen in a/e- (PGIDec 2000) a) Polio b) Syringomyelia c) Leprosy d) TB. Meningitis A , D 270
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All are congenital myopathies except - a) Central core myopathy (AIIMS Nov 01) b) Nemaline myopathy c) Z band myopathy d) Centronuclear myopathy 271
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Congenital Myopathies are
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  • Winter '16
  • jean grey

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