Dystonia Case Study
INTRODUCTION:
Dystonia is a neurological syndrome of typically patterned, often repetitive twitching movements or abnormal postures, associated with sustained or intermittent muscle contractions (23649720). These symptoms usually worsen by voluntary action of the muscle. (24978640). It can be classified in multiple ways based on, the age of onset (early or late); the topographical involvement of regions (focal - single region, segmental - two or more adjacent regions, multifocal - two or more non-adjacent regions, generalised - leg/legs and trunk with one other region, hemidystonia - ipsilateral arm and leg); the loci of gene involved; primary or secondary (drugs and neurological disorders) (14509661). Still being primitive in understanding the physiology of dystonia, synchronized contraction of agonistic and antagonistic muscle groups due to cortical over excitability and loss of inhibition at a required level of the nervous system is considered to be the possible pathophysiology of dystonia. (8752405) Amongst the early onset dystonia’s, …show more content…
GCH 1 is one among the important enzymes required for the denovo synthesis of BH4. The decrease in GCH 1 enzyme due to the mutation of GCH 1 gene, results in lowering the BH4, in turn, declining the serotonin and catecholamine’s levels (1).
Figure:
DRD due to TH or BH4 deficiency can manifest as a recessive form (7814018) but cannot be called Segawa’s disease (17971156). Mutation of TH gene on 11 p15.5 (16541791) and def in the enzymes dihydropteridine reductase, sepiapterin reductase, and 6-pyruvoyl-tetrahydropterin synthase, which play an important role in the synthesis of BH4 along with GCH1, can cause TH and BH4 deficiency respectively
Dystonia is a neurological syndrome of typically patterned, often repetitive twitching movements or abnormal postures, associated with sustained or intermittent muscle contractions (23649720). These symptoms usually worsen by voluntary action of the muscle. (24978640). It can be classified in multiple ways based on, the age of onset (early or late); the topographical involvement of regions (focal - single region, segmental - two or more adjacent regions, multifocal - two or more non-adjacent regions, generalised - leg/legs and trunk with one other region, hemidystonia - ipsilateral arm and leg); the loci of gene involved; primary or secondary (drugs and neurological disorders) (14509661). Still being primitive in understanding the physiology of dystonia, synchronized contraction of agonistic and antagonistic muscle groups due to cortical over excitability and loss of inhibition at a required level of the nervous system is considered to be the possible pathophysiology of dystonia. (8752405) Amongst the early onset dystonia’s, …show more content…
GCH 1 is one among the important enzymes required for the denovo synthesis of BH4. The decrease in GCH 1 enzyme due to the mutation of GCH 1 gene, results in lowering the BH4, in turn, declining the serotonin and catecholamine’s levels (1).
Figure:
DRD due to TH or BH4 deficiency can manifest as a recessive form (7814018) but cannot be called Segawa’s disease (17971156). Mutation of TH gene on 11 p15.5 (16541791) and def in the enzymes dihydropteridine reductase, sepiapterin reductase, and 6-pyruvoyl-tetrahydropterin synthase, which play an important role in the synthesis of BH4 along with GCH1, can cause TH and BH4 deficiency respectively