I'm from Bangladesh. My 6.5 yrs( 18 kg) old son has been primarily diagnosed with 'primary dystonia'/paraxysmal dystonia with Prrt2 gene mutation indicating PKD / PNKD/ FIC, though NINS prof. Suspected DYT1 mutation. ( noted here that Prrt2 Gene associated symptoms suggested brief attack but my sons sysmptom - i mean the occasional swelling and twisting of back spine muscle or dystonic posture with pain lasts 30 mints upto 1.5 hours when occurs. It occured total 7 - 8 times in last 2 years(got vedio). However we didn’t notice any infantile convulsion other than one episode at 19 months of age when hospitalised with bronchonumonia with sever fever & measles.) Main symptom is occasional stiffness/spasm and gradual sewelling & painful bending/twisting of right vertical spine/spine muscle to right side leading ribs & body twisting/balancing to left side for 30 minutes to 2 hrs progressively without loosing consciousness for last 2 yrs . Contraction of bladder muscle with false tendency to urinate / stool/ drop of urines , contraction of face/eye muscle (for short time) ,Sometime before sleep at night says i cant see. tougue contraction /mouth opening for hour is also seen.Thai/legs opening/spreading is also seen. Always gets panicked before going to sleep at night. Sweats. Often cries at night holding toes. He has history of neonatal jaundice (18 unit) & fever just after one day of birth at hospital. Phototherapy was given. Got birth at 37 weeks with 2800 gm wtg. Since birth he got repeated cough cold. Often Took aziththromysin syrup. Hospitalised for RTI/ bronchonumonia. Often took nebulization in winter. Took kitotofen for 2 year continuously allergic Rinititis. At the time of c section, took more time for getting senseless because the first anesthesia injection didn't work and solved with 2nd one. His Mother got mild asthma /respiratory stress before and after c-section. Our first one was a miscarrage with no embryo development in 2012. Then gone under progesterone horme / iron therapy got pregnant again in 2015. He got sever miseals in all body parts with bronchonumonia at 19 months age with 2 weeks hospitalization with 1 gm ceftriaxone daily with Kasin. At that time 1 episode of convulsion/ bending of back was seen when fever rised to 105 at 5 th or 6 th day of fever. Besides, his voice changed. May be frightened/ traumatised with repeated blood taking / canula injection for long. Diagnosis/ test: EEG:(2020, 2022) Nil MRI spine: Nil MRI Brain: unspecific Basic neumetabolic : Nil CPK, Vit D, PTH, calcium, mg, done Whole exume sequencing : Prrt2 mutation ( insignificant) indicating PNKD/ PKD / FIC with suggestion for parental sequencing of the variant. Past Medication : Some prof: Valex 1/2 + 1/2 + 1/2 ( 01 yr suspecting focal seizure/ spasm but now stopped ) now stopped by NINS. Defrol, Cal D, Neurobest, tofen ( other drs) Present medication: Hexinor 1 gm /Trihexyphenidyl, Codopa, Defrol since Dec 2022.( for 2 months). Both by NINS & Another neurologist. 1 episode 0f 30 mins happened during this medication tenure. Sir, What should we do further????
Between the thick accent, the lisp, and her speaking too fast, I can't understand her at all. She needs to slow her speech down and enunciate her words.
I want to know how long PKD going to last in our body. Will it going to be forever or upto some age.🙏🙏🙏🙏please tell me if u know or if u have experience in these.
I'm from Bangladesh. My 6.5 yrs( 18 kg) old son has been primarily diagnosed with 'primary dystonia'/paraxysmal dystonia with Prrt2 gene mutation indicating PKD / PNKD/ FIC, though NINS prof. Suspected DYT1 mutation. ( noted here that Prrt2 Gene associated symptoms suggested brief attack but my sons sysmptom - i mean the occasional swelling and twisting of back spine muscle or dystonic posture with pain lasts 30 mints upto 1.5 hours when occurs. It occured total 7 - 8 times in last 2 years(got vedio). However we didn’t notice any infantile convulsion other than one episode at 19 months of age when hospitalised with bronchonumonia with sever fever & measles.)
Main symptom is occasional stiffness/spasm and gradual sewelling & painful bending/twisting of right vertical spine/spine muscle to right side leading ribs & body twisting/balancing to left side for 30 minutes to 2 hrs progressively without loosing consciousness for last 2 yrs .
Contraction of bladder muscle with false tendency to urinate / stool/ drop of urines , contraction of face/eye muscle (for short time) ,Sometime before sleep at night says i cant see. tougue contraction /mouth opening for hour is also seen.Thai/legs opening/spreading is also seen.
Always gets panicked before going to sleep at night. Sweats. Often cries at night holding toes.
He has history of neonatal jaundice (18 unit) & fever just after one day of birth at hospital. Phototherapy was given. Got birth at 37 weeks with 2800 gm wtg.
Since birth he got repeated cough cold. Often Took aziththromysin syrup. Hospitalised for RTI/ bronchonumonia. Often took nebulization in winter. Took kitotofen for 2 year continuously allergic Rinititis.
At the time of c section, took more time for getting senseless because the first anesthesia injection didn't work and solved with 2nd one.
His Mother got mild asthma /respiratory stress before and after c-section. Our first one was a miscarrage with no embryo development in 2012. Then gone under progesterone horme / iron therapy got pregnant again in 2015.
He got sever miseals in all body parts with bronchonumonia at 19 months age with 2 weeks hospitalization with 1 gm ceftriaxone daily with Kasin. At that time 1 episode of convulsion/ bending of back was seen when fever rised to 105 at 5 th or 6 th day of fever. Besides, his voice changed. May be frightened/ traumatised with repeated blood taking / canula injection for long.
Diagnosis/ test:
EEG:(2020, 2022) Nil
MRI spine: Nil
MRI Brain: unspecific
Basic neumetabolic : Nil
CPK, Vit D, PTH, calcium, mg, done
Whole exume sequencing : Prrt2 mutation ( insignificant) indicating PNKD/ PKD / FIC with suggestion for parental sequencing of the variant.
Past Medication :
Some prof: Valex 1/2 + 1/2 + 1/2 ( 01 yr suspecting focal seizure/ spasm but now stopped ) now stopped by NINS.
Defrol, Cal D, Neurobest, tofen ( other drs)
Present medication:
Hexinor 1 gm /Trihexyphenidyl, Codopa, Defrol since Dec 2022.( for 2 months). Both by NINS & Another neurologist. 1 episode 0f 30 mins happened during this medication tenure.
Sir, What should we do further????
Between the thick accent, the lisp, and her speaking too fast, I can't understand her at all. She needs to slow her speech down and enunciate her words.
I want to know how long PKD going to last in our body. Will it going to be forever or upto some age.🙏🙏🙏🙏please tell me if u know or if u have experience in these.
What is your age?
It should go away until 30.
I am a doctor.
I'm a patient of pkd, why should it go way with 30 years?
I m 27. Doctor once told me it should go away after 25 but if it so then it would be a great gift
I'm 31 and still have it
@@isumitd9586DID PKD GO AWAY???