Coenzyme Q10 deficiency

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Prevalence (%) of clinical parameters based on data from 2 references describing 40 individuals



72
Ataxia
61
Cerebellar atrophy
44
Muscle weakness
42
Lactate accumulation
40
Seizures
39
Developmental delay
33
Myopathy
25
Mental retardation
25
Neuropathy
23
Nephropathy
22
Increased blood CK
17
Hearing loss
15
Hypotonia
14
Short stature
11
Myoglobinuria
8
Cerebral atrophy
8
Dystonia
8
Nystagmus
8
Ptosis
8
Retinitis pigmentosa
8
Scoliosis
6
Cardiomyopathy
6
Exercise intolerance
6
Failure to thrive
6
Myopia
6
Optic atrophy
6
Vomiting
3
Cataract
3
Chorea
3
Diarrhea
3
Dysarthria
3
Dysphagia
3
Headache
3
Jaundice
3
Pancreatic insufficiency
3
Tubulopathy




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 Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms



Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
Nephropathy urinary 100 % 17855635 2011-10-18
Ataxia nervous 72 % 17442627 2011-10-11
Cerebellar atrophy nervous 61 % 17442627 2011-10-11
Seizures nervous 50 % 17855635 2011-10-11
Muscle weakness skeletal 44 % 17442627 2011-10-11
Lactate accumulation circulatory 42 % 17442627 2011-10-11
Developmental delay multi 39 % 17442627 2011-10-11
Seizures nervous 39 % 17442627 2011-10-11
Myopathy skeletal 33 % 17442627 2011-10-11
Hypotonia nervous 25 % 17855635 2011-10-11
Neuropathy nervous 25 % 17855635 2011-10-11
Mental retardation nervous 25 % 17442627 2011-10-11
Increased blood CK circulatory 22 % 17442627 2011-10-11
Hearing loss nervous 17 % 17442627 2011-10-11
Short stature multi 14 % 17442627 2011-10-11
Hypotonia nervous 14 % 17442627 2011-10-11
Nephropathy urinary 14 % 17442627 2011-10-11
Myoglobinuria circulatory 11 % 17442627 2011-10-11
Ptosis nervous 8 % 17442627 2011-10-11
Cerebral atrophy nervous 8 % 17442627 2011-10-11
Scoliosis skeletal 8 % 17442627 2011-10-11
Retinitis pigmentosa nervous 8 % 17442627 2011-10-11
Dystonia nervous 8 % 17442627 2011-10-11
Nystagmus nervous 8 % 17442627 2011-10-11
Vomiting digestive 6 % 17442627 2011-10-11
Failure to thrive multi 6 % 17442627 2011-10-11
Myopia nervous 6 % 17442627 2011-10-11
Optic atrophy nervous 6 % 17442627 2011-10-11
Cardiomyopathy circulatory 6 % 17442627 2011-10-11
Exercise intolerance skeletal 6 % 17442627 2011-10-11
Headache nervous 3 % 17442627 2011-10-11
Diarrhea digestive 3 % 17442627 2011-10-11
Cataract nervous 3 % 17442627 2011-10-11
Tubulopathy urinary 3 % 17442627 2011-10-11
Pancreatic insufficiency digestive 3 % 17442627 2011-10-11
Dysphagia digestive 3 % 17442627 2011-10-11
Chorea nervous 3 % 17442627 2011-10-11
Dysarthria nervous 3 % 17442627 2011-10-11
Jaundice digestive 3 % 17442627 2011-10-13



List of references:


COQ2 nephropathy: a newly described inherited mitochondriopathy with primary renal involvement.
Francesca Diomedi-Camassei, Silvia Di Giandomenico, Filippo M Santorelli, Gianluca Caridi, Fiorella Piemonte, Giovanni Montini, Gian Marco Ghiggeri, Luisa Murer, Laura Barisoni, Anna Pastore, Andrea Onetti Muda, Maria Luisa Valente, Enrico Bertini, Francesco Emma,



Journal of the American Society of Nephrology : JASN - Oct 2007



Infantile and pediatric quinone deficiency diseases.
Agnès Rötig, Julie Mollet, Marlène Rio, Arnold Munnich,



Mitochondrion - Jun 2007