neuromoyotoniyodom autosomal resussive axonal neuropathy

purogamana poolii-neuropathy, neuromyotonia, myokkimiya, suedo-myotonia, kaii-call sankochangal, soochi iii. emm. jii. yill drishyamaakunna asaadhaarana neuro-myotonic/myochemic pravartthanam ennivayaal savisheshamaaya oru apoorva paarambarya vaikalyamaan gamstorp-wolfart syndrome ennum ariyappedunna neuromeotoniyayodu autosomal resussive aaksanal neuropathy. omim parayunnathanusarichu, medical saahithyathil ekadesham 52 kesukal report cheythittundu; 2014 muthal puthiya kesukal (kooduthalum europil ninnum vadakke amerikkayil ninnum) report cheyyappettittund.
vivaranam.
eee thakaraarulla aalukal saadhaaranayaayi inipparayunna lakshanagal kaanikkunnu axonal neuropathy, kaikal, kaalukal, kaalukal ennivayile peshikalude ksheenam (pazhaakal/apachayappedal), vyayaamam cheyyumbol valare prakadamaaya vittumaaraatha peshikalude balaheenata, asaadhaaranamaaya nadattham, apakadakaramaaya veezhchaykkulla uyarnna saadhyatha, sandhi sandhivatham, neuromyotonia, myokkimiya. chila aalukalil, aaksanal neuropathy thanuthathum choodullathumaaya thaapanilayodulla avarude samvedanakshamatha kuraykkukayum kaikaludeyum kaalukaludeyum vidoora bhaagangalil sparsikkukayum cheiyunnu. eee rogamulla oraal thanutha thaapanilaykk vidheyanaakumbol chila lakshanagal thaalkkaalikamaayi vashalaakunnu.
kaaranagal.
chromosome 5 (c.334 c> a, p) leeii hint 1 jeenil oru homocygus mutation moolamaanu eee takaraar takaraar enn).
ettimolaji.
1991ll hahn thudangiyavar chernnaanu eee avastha kandethiyathu.", athirlingathilulla rund chainees-canadian sahodarangale avar vivarichappol. purushanu thante pidi vidunnathil budhimuttukal undaayirunnu, kuttikkaalatthe neuromoyotony peshikalude kaadinyavum, purogamana motor neuropathy, ezhuthumbozhum athinusheshavum viral njerukkavum, viral, thuda, kaimutt peshikalude swamedhayaa ulla valarcha, call thullal sambandhamaaya nadattha prasnangal, kaii balaheenata, hyporephlexia, naav thaalavaadyam, ilaya sahodariye sahodaraneppole baadichittilla, aval avante chila lakshanagal pankittu, avayil ulppedunnu; mukalilum thaazheyumulla disttal peshi balaheenata. rund sahodarangalkkum vittumaaraatha motor neuropathy, peripheral naadi fiber hyperexattability, onniladhikam denervation ennivayundennu velippeduthi. sahodaranil nadatthiya peshi biopsykal vittumaaraatha bhagikamaaya ksheenam kandethi.
hahn thudangiyavar report cheytha sahodarangaliloodeyaanu. lokamembaadumulla 33 kudumbangalil ninnulla 50 puthiya rogikalum, eee takaraar hint 1 mutationukal moolamaanennu kandethi.

