Indication

Thymidine kinase 2 deficiency

Thymidine kinase 2 deficiency is an ultra-rare, autosomal recessive mitochondrial disease caused by pathogenic variants in the nuclear *TK2* gene, which disrupt the mitochondrial pyrimidine salvage pathway. Read more about Thymidine kinase 2 deficiency

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KYGEVVI (doxecitine/doxribtimine)

THYMIDINE KINASE 2 DEFICIENCY

UCB, Inc.

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About Thymidine kinase 2 deficiency.

This enzymatic defect depletes mitochondrial deoxyribonucleotide pools, resulting in mitochondrial DNA depletion, multiple deletions, and impaired cellular energy production predominantly affecting skeletal muscle.

Clinically, the disease presents along a continuous spectrum ranging from severe, rapidly progressive infantile- or childhood-onset myopathy to more slowly progressive adult-onset forms.

Hallmark manifestations include progressive proximal limb weakness, ptosis, progressive external ophthalmoplegia, facial and bulbar weakness, and life-threatening respiratory failure due to diaphragmatic compromise.

medlineplus.gov
Thymidine kinase 2 deficiency is an ultra-rare, autosomal recessive mitochondrial disease caused by pathogenic variants in the nuclear *TK2* gene, which disrupt the mitochondrial pyrimidine salvage pathway This enzymatic defect depletes mitochondrial deoxyribonucleotide pools, resulting in mitochondrial DNA depletion, multiple deletions, and impaired cellular energy production predominantly affecting skeletal muscle
nih.gov
Thymidine kinase 2 deficiency is an ultra-rare, autosomal recessive mitochondrial disease caused by pathogenic variants in the nuclear *TK2* gene, which disrupt the mitochondrial pyrimidine salvage pathway Hallmark manifestations include progressive proximal limb weakness, ptosis, progressive external ophthalmoplegia, facial and bulbar weakness, and life-threatening respiratory failure due to diaphragmatic compromise
rarediseases.org
This enzymatic defect depletes mitochondrial deoxyribonucleotide pools, resulting in mitochondrial DNA depletion, multiple deletions, and impaired cellular energy production predominantly affecting skeletal muscle Clinically, the disease presents along a continuous spectrum ranging from severe, rapidly progressive infantile- or childhood-onset myopathy to more slowly progressive adult-onset forms Hallmark manifestations include progressive proximal limb weakness, ptosis, progressive external oph...
umdf.org
This enzymatic defect depletes mitochondrial deoxyribonucleotide pools, resulting in mitochondrial DNA depletion, multiple deletions, and impaired cellular energy production predominantly affecting skeletal muscle Clinically, the disease presents along a continuous spectrum ranging from severe, rapidly progressive infantile- or childhood-onset myopathy to more slowly progressive adult-onset forms
nih.gov
Clinically, the disease presents along a continuous spectrum ranging from severe, rapidly progressive infantile- or childhood-onset myopathy to more slowly progressive adult-onset forms
youtube.com
Hallmark manifestations include progressive proximal limb weakness, ptosis, progressive external ophthalmoplegia, facial and bulbar weakness, and life-threatening respiratory failure due to diaphragmatic compromise

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