SUCLA2 is an important component . Absence of which could result in Krebs failure, DNA depletion, and encephalomyopathy. SUCLA2 has another function which is to physically stabilize the mitochondrial nucleotide diphosphokinase (NDPK) . The first SUCLA2 was discovered for the cause of encephalomyopathy with DNA depletion and therefore the name came up as mitochondrial DNA (mtDNA). The type 2 SUCLA phenomenon is a severe one in the patients, and that includes deafness and wasting of myopathy leigh syndrome causing death in childhood. There was a case reported of 3 South Lebanese siblings with a miss sense of mutation but with follow-up to later stage it revealed that this mutation could occur in the middle age as well and that would lead to recessive non-progressive movement disorder with hearing loss. Another case where 2 sisters and brother were born they had identical perinatal course. They could initially hear and respond to sounds which gradually lost by age of 2 years and have been deaf since then. So basically a movement disorder appeared in the later first year of life and developed until the present pattern which continues to be unchanged to the current ages of 29 to 37 years. Hence we conclude that it is a constant diagnosis of all extremities and could result in affecting neck muscles , accentuated with myoclonic jerks and later giving the appearance of chorea . it also subsides with sleep.
Reference link- https://onlinelibrary.wiley.com/doi/10.1002/acn3.51247
