Mitochondrial multiorgan disorder syndrome score generated from definite mitochondrial disorders

Figures & data

Table 1 Characterization of the 36 adult MID patients included in this study

Patients	Age (years)	Sex	BCD	Mutation	NAO	NAAO	NOIPH	MIMODSs
1	57	M	nd	tRNA(Leu)	7	13	23	43
2	66	M	n	ND1	7	16	26	49
3	65	F	C1,2,3	nd	6	14	25	45
4	79	M	C1-4	nd	7	14	20	41
5	81	F	C4	nd	3	4	8	15
6	71	M	nd	tRNA(Thr)	3	6	12	21
7	46	M	C1-4	nd	5	11	23	39
8	51	M	C4	nd	4	10	15	29
9	34	F	C1-4	nd	8	12	20	40
10	81	F	C2,3	nd	5	12	24	41
11	70	F	n	mtDNAdel	8	14	23	45
12	38	F	nd	tRNA(Glu)	4	8	13	25
13	75	F	C1	ND1	7	19	33	59
14	66	F	nd	16S-rRNA	3	7	17	27
15	74	M	C1	nd	5	11	15	31
16	29	F	nd	mtDNAdel	9	20	44	53
17	59	M	C1	nd	4	6	12	22
18	56	M	nd	ND1	4	12	23	39
19	43	M	nd	cytb, ND1	9	21	41	71
20	64	M	nd	tRNA(Lys)	6	10	22	38
21	45	F	nd	mtDNAdel	4	5	10	19
22	82	F	C1	nd	7	16	29	52
23	73	F	nd	tRNA(Lys)	7	15	32	54
24	62	M	C2,3	nd	6	11	14	31
25	47	M	nd	ND3	3	8	11	22
26	50	M	C4	nd	7	10	21	38
27	82	F	nd	cytb	5	10	17	32
28	68	F	nd	tRNA(Lys)	4	11	19	33
29	44	M	nd	tRNA(Lys)	1	1	1	3
30	60	M	nd	ND3	2	3	6	11
31	65	F	nd	tRNA(Iso), cytb, ATP6	8	18	31	57
32	68	M	C1	nd	4	6	14	24
33	53	M	nd	ND1	4	7	15	26
34	49	F	C1-4	mtDNA depletion	4	7	10	21
35	67	F	C1	nd	7	10	18	35
36	67	M	C2,3,4	nd	5	11	21	37

Note: Gene names are in italics.

Abbreviations: BCD, biochemical defect; C, respiratory chain complex; F, female; M, male; MID, mitochondrial disorder; MIMODSs, mitochondrial multiorgan disorder syndrome score; n, normal; NAAO, number of abnormalities in all organs; NAO, number of affected organs; nd, not done; NOIPH, number of individual PubMed hits.

Figure 1 Frequency of organ involvement and gender difference among 36 patients with definite MID.

Abbreviations: MID, mitochondrial disorder; NOP, number of patients.

Table 2 Abnormalities (n=63) in organs frequently affected by an MID in the present investigation and the literature

Organ	Literature reported abnormalities	NOPWTA	PubMed hits	PubMed points	References
Muscle	Progressive external ophthalmoplegia	6	~500	3	^Citation33
	Ptosis	9	~150	3	^Citation34
	Easy fatigability, exercise intolerance	13	~110	3	^Citation35
	Limb weakness	20	~60	2	^Citation36
	Hyper-CK-emia	20	~55	2	^Citation37
	Wasting	19	~50	1	^Citation31
	Respiratory insufficiency	1	~45	1	^Citation36
	Myoglobinuria	1	~30	1	^Citation35
	Cramping	9	18	1	^Citation38
	Myalgia	14	16	1	^Citation35
	Abnormal lactate stress test	15	15	1	^Citation39
	Double vision, diplopia	8	11	1	^Citation40
	Stiffness	2	5	1	^Citation41
	Fasciculations	5	3	1	^Citation38
	Muscle rupture	2	1	1	^Citation42
CNS	Epilepsy	4	~600	3	^Citation43, ^Citation44
	Cortical, subcortical, cerebellar, BS atrophy	7	~250	3	^Citation45
	Ataxia	4	~200	3	^Citation46
	Parkinson	0	~150	3	^Citation47
	Dementia	2	~100	3	^Citation48
	Stroke-like episodes	0	~50	2	^Citation45
	Migraine	2	~50	2	^Citation31
	Dystonia	0	~40	1	^Citation49
	Tremor	6	~40	1	^Citation47
	Leucencephalopathy, white matter lesions	12	~35	1	^Citation50
	Spasticity	5	~25	1	^Citation46
	Dysarthria	2	~20	1	^Citation51
	Psychosis	0	~15	1	^Citation52
	Confusional state	0	~15	1	^Citation53
	Mild cognitive impairment	4	~10	1	^Citation54
	Basal ganglia calcification	1	10	1	^Citation45
	Dilative arteriopathy	0	1	1	^Citation55
	Delayed visually evoked potentials	7	1	1	^Citation56
	Myelopathy	0	1	1	^Citation57, ^Citation58
Endocrine	Diabetes	9	~700	3	^Citation37
	Short stature	12	~80	2	^Citation20
	Thyroid dysfunction	20	~20	1	^Citation59
	Hypoparathyroidism	2	~15	1	^Citation60
	Adrenal insufficiency (Addison’s disease)	0	~15	1	^Citation61
	Hypogonadism	5	~15	1	^Citation46
	Osteoporosis	7	~10	1	^Citation62
	Pituitary adenoma	0	4	1	^Citation63
	Ovarian cysts	1	2	1	^Citation64
	Gynecomastia	1	2	1	^Citation65
Heart	Hypertrophic, dilated, restrictive CMP	7	~250	3	^Citation66
	Heart failure, systolic dysfunction	8	~70	2	^Citation67
	Arrhythmias	14	~60	2	^Citation68
	Arterial hypertension	0	~50	1	^Citation69
	Noncompaction	4	~15	1	^Citation70
	Pulmonary hypertension	0	~10	1	^Citation71
	Aortic root ectasia	0	10	1	^Citation25
	Coronary heart disease	0	3	1	^Citation72, ^Citation73
	Congenital heart disease	0	2	1	^Citation32
GI	Hepatopathy	9	~100	3	^Citation74
	Vomiting	1	~20	1	^Citation75
	Diarrhea	5	~20	1	^Citation75
	Pancreatitis	2	~20	1	^Citation76
	Steatosis hepatis	3	~15	1	^Citation77
	Nonspecific colitis	1	~10	1	^Citation78
	Diverticulosis	3	1	1	^Citation79
	Sialadenitis	0	1	1	^Citation13
PN	Neuropathy	18	.100	3	^Citation80
	Neuronopathy	1	2	1	^Citation54, ^Citation81

Abbreviations: BS, brain stem; CK, creatine kinase; CMP, cardiomyopathy; CNS, central nervous system; GI, gastrointestinal; MID, mitochondrial disorder; NOPWTA, number of patients with this abnormality; PN, peripheral nerve.

Table 3 Abnormalities (n=31) in organs more rarely affected by an MID in the present investigation and the literature

Organ	Literature reported abnormalities	NOPWTA	PubMed hits	PubMed points	References
Eyes	Optic atrophy	2	~400	3	^Citation82
	Retinopathy	2	~150	3	^Citation83
	Cataract	2	~40	1	^Citation19
	Glaucoma	3	~20	1	^Citation84
Ears	Hypoacusis, anacusis	11	~500	3	^Citation19
	Tinnitus	4	~5	1	^Citation85
Kidneys	Renal insufficiency, renal failure	5	~80	2	^Citation86
	Renal tubular acidosis	0	46	2	^Citation24
	Fanconi syndrome	0	~15	1	^Citation87
	Renal cysts	1	~5	1	^Citation88
	Nephrolithiasis	2	1	1	^Citation89
Vascular	Dissection, spontaneous rupture	0	2	1	^Citation26, ^Citation27
	Aneurysm formation	0	1	1	^Citation29
	Ectasia, dilative arteriopathy	0	1	1	^Citation55
	Atherosclerosis	0	1	1	^Citation73, ^Citation90
BM	Anemia	10	~80	2	^Citation91
	Thrombocytopenia	2	~5	1	^Citation92
	Leukopenia	1	~5	1	^Citation92
Bones	Skeletal abnormalitiesa	2	~15	1	^Citation13, ^Citation24, ^Citation93
	Polyarthralgia	2	1	1	^Citation4, ^Citation94
	Arthrosis	2	1	1	^Citation95
Dermis	Psoriasis	1	1	1	^Citation96
	Lipomatosis	2	~10	1	^Citation31
	Vitiligo	0	2	1	^Citation97, ^Citation98
	Edema	0	2	1	^Citation13
	Hypertrichosis	0	2	1	^Citation97, ^Citation98
	Baldness, alopecia	0	1	1	^Citation99
	Madarosis	0	1	1	^Citation100
	Skin rashes	0	1	1	^Citation97
	Seborrheic enzema	1	1	1	^Citation97
	Atopic dermatitis	1	1	1	^Citation97

Note:

a These include facial dysmorphism, hypertelorism, and brachydactyly.

Abbreviations: BM, bone marrow; MID, mitochondrial disorder; NOPWTA, number of patients with this abnormality.

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