Table 4.

Primary Coenzyme Q10 (CoQ10) Deficiency (Possibly Responsive to CoQ10 Replacement)

Gene 1MOIPhenotypic FeaturesDesignation /
GeneReview /
OMIM
COQ2 2ARSRNS, retinitis pigmentosa, SNHL, hypertrophic cardiomyopathy, ragged red muscle changes, seizures, lactic academia 3COQ10D1; Primary CoQ10 Deficiency
AD
AR		A small number of persons of Japanese ancestry w/multiple system atrophy type C have biallelic or heterozygous COQ2 pathogenic variants.OMIM 146500
COQ4 ARHeart failure, hypertrophic cardiomyopathy, retinopathy, encephalopathy, seizures, ataxia, myopathyCOQ10D7; Primary CoQ10 Deficiency
COQ8A AR• Onset of muscle weakness & reduced exercise tolerance between ages 18 mos & 3 yrs, followed by cerebellar ataxia (the predominant clinical feature) w/severe cerebellar atrophy on MRI
• Disease course varies, incl both progressive & apparently self-limited ataxia		COQ10D4; Primary CoQ10 Deficiency; SCAR9 (OMIM 612016)

AD = autosomal dominant; AR = autosomal recessive; MOI = mode of inheritance; SNHL = sensorineural hearing loss; SRNS = steroid-resistant nephrotic syndrome

1.

Genes are listed in alphabetic order.

2.
3.

Onset usually in infancy or early childhood

From: Hereditary Ataxia Overview

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