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Charcot Marie Tooth ( CMT ) disease is a transmissible neuropathy that is classified as a genetically heterogeneous group of disease affecting the peripheral nervous system of rules . It is the most common hereditary neuropathy and is also have it off as hereditary motor andsensory neuropathy(HMSN ) . Since it was first describe by Charcot , Marie , and Tooth in 1886 , it is strike by their names . Approximately 10 - 30 cases per 100,000 populations are strike by Charcot Marie Tooth , depending on the geographical area of origin.(1 )
Classification Of Charcot Marie Tooth Disease
The sorting of the disease is based on heritage convention and clinical , electrophysiological and pathological feature . Dyck and Lambert in 1968 introduced the language ‘ hereditary motor and receptive neuropathy ’ . They also classified HMSN type I ( or Charcot Marie Tooth 1 ) as the autosomal prevalent form with low conductivity velocities and HMSN type II ( or Charcot Marie Tooth 2 ) as the autosomal dominant physical body with preserved conduction velocities . In 1980 Harding and Thomas line up out that the motor nerve conduction velocities have a bimodal distribution , so they set a threshold for average cheek conduction velocities ( NCV ) at 38 m / s between demyelinating HMSN character I ( motor NCV < 38 m / s ) and the axonal HMSN type II ( motor NCV > 38 m / s).(1 )
The most vulgar classification of Charcot Marie Tooth includes the inheritance normal ( autosomal prevalent , autosomal recessionary , decade - linked ) and clinical determination along with either electrophysiological or anatomic pathology finding ( demyelinate or axonal ) . The demyelinating form chiefly affects the myeline cocktail dress , which border the axons of peripheral heart . Since , myelin sheath protects and increase the nerve conductivity velocities , when there is myelin expiration , it leave in low NCV . In the axonal form of the disease , the axone is strike and the NCV is preserved ; however , the bounty of the motor and sensory potential difference is reduced . There are disease types in which both the axon and the myelin sheath are affected and they have intermediate conductivity speeds ; these are mostly X - linked diseases.(1 )
The combination and rendering of this data help in identifying unlike types of Charcot Marie Tooth and classify them . The majority of the cases settle under Charcot Marie Tooth type 1 , which is mainly autosomal prevalent and is the demyelinating ( loss of myeline cocktail dress ) kind with reduced NCV . to boot , Charcot Marie Tooth type 2 has autosomal dominant heritage and is the axonal type ; Charcot Marie Tooth type 4 has autosomal recessionary inheritance pattern and is the most grave form . These type are further subdivided into subcategories.(1 )
Charcot Marie Tooth 1 ( HMSN I ) is a peripheral myelination disorder that occurs due to a mutant in peripheral medulla protein-22 ( PMP22 ) cistron . The subtypes of CMT 1 admit CMT 1A ( most unwashed ) and CMT 1B , which are both autosomal dominant inheritance , CMT 1C ( unknown somatic chromosome ) , CMT X1 ( X - link up predominant ) , CMT X2 ( X - linked recessive ) , CMT X3 ( X - link recessionary ) and autosomal recessive CMT 1.(2 )
Charcot Marie Tooth 2 ( HMSN II ) is the axonal eccentric that is cause due to axonal last and Wallerian retrogression and mutation in the ATP1A1 cistron is note . Its subtypes admit CMT 2A , CMT 2B , CMT 2C , CMT 2D , which have all autosomal dominant inheritance and there is another CMT 2 that is autosomal recessive.(2 )
Charcot Marie Tooth 3 ( HMSN III ) is also known as Dejerine - Sottas disease and has childish - onset that result in severe myelin personnel casualty and delayed motor acquirement , it is more severe than Charcot Marie Tooth 1 . It is inherit as an autosomal recessionary pattern.(2 )
Charcot Marie Tooth X and CMT 4 , both are assort with myelin case loss and mutations in the PRPS1 gene is noted in CMT X , which is an X - linked inheritance.(2)HMSN IV is also know as Refsum syndrome and is characterize by phytanic acid surplusage . It has an autosomal recessive inheritance pattern and there is four of peripheral neuropathy , retinitis pigmentosa , cerebellar planetary house , and increase in CSF protein.(2 )
HMSN V is also known as spastic paraplegia in which there is an absence seizure of sensory symptoms , but normal upper limbs.(2 )
HMSN VI is characterise by optic atrophy.(2 )
HMSN VII is link with retinitis pigmentosa.(2 )
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