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Table 2 Medians and means, in years for: age at onset of first symptoms for mitochondrial disease, age at diagnosis of mitochondrial disease, and time from onset of first symptoms to diagnosis (TOD) (panel A); TOD by dichotomized age at symptom onset (panel B); TOD by trichotomized age at symptom onset (panel C); and TOD by clinical syndrome of first symptoms (panel D)

From: The evolution of the mitochondrial disease diagnostic odyssey

 

N

Median

Interquartile Range

Mean (SD)

A Medians and means for age at onset of first symptoms of mitochondrial disease, age at diagnosis, and TOD

Age at onset

209

14.5

37.8

20.1 (20.3)

Age at diagnosis

198

30.2

43.1

29.7 (22.0)

Time from onset to diagnosisa

198

4.2

11.3

9.9 (13.0)

B TOD by dichotomized age at symptom onset (N = 198)

p = 0.07b

< 2

68

2.9

8.1

9.4 (15.0)

≥ 2

130

5.8

11.6

10.2 (11.6)

C TOD by trichotomized age at onset (N = 198)

p = 0.09c

< 2

68

2.9

8.1

9.4 (15.0)

2–< 12

23

5.3

23.8

15.8 (17.6)

≥ 12

107

5.8

10.6

8.9 (9.9)

D TOD by clinical syndrome of first symptoms (N = 182)d

p = 0.24b

Classice

65

4.0

10.6

8.3 (11.2)

Non-classic

117

4.1

11.3

9.9 (13.1)

  1. a17 patients missing year of diagnosis excluded. Missing months were recoded to 6
  2. bWilcoxon rank-sum test
  3. cKruskal–Wallis test
  4. d16 patients with unknown syndromes excluded
  5. eClassic syndromes include (1) CPEO or CPEO-plus (2) MELAS (3) Leigh syndrome (4) LHON (5) Kearns-Sayre syndrome (6) MERRF (7) NARP (8) Alpers-Huttenlocher syndrome (Alpers syndrome) (9) MNGIE (10) Reversible infantile myopathy with cytochrome c oxidase deficiency (11) Aminoglycoside-induced deafness (12) Barth syndrome (13) Maternally Inherited Diabetes and deafness (MIDD) (14) Pearson syndrome. Non-classic syndromes include (1) multisystemic syndrome (2) encephalomyopathy (3) Mitochondrial myopathy (4) Mitochondrial DNA (mtDNA) depletion syndrome (5) Secondary mitochondrial dysfunction (primary genetic condition not mitochondrial) (6) ETC dysfunction not otherwise specified (7) Other well defined syndrome (8) Polymerase gamma (POLG) related disorders/ataxia neuropathy spectrum (9) Mitochondrial DNA (mtDNA) deletion(s) (10) Coenzyme Q10 deficiency (11) Encephalopathy (12) Fatty acid oxidation disorder (13) Pyruvate dehydrogenase deficiency (PDH) (14) Leukodystrophy (15) Hepatocerebral syndrome (16) Pyruvate carboxylase deficiency (PC) [1]