Myopathy and diabetes mellitus

General Information (adopted from Orphanet):

Synonyms, Signs: MITOCHONDRIAL MYOPATHY, LIPID TYPE
Number of Symptoms 34
OrphanetNr: 2596
OMIM Id: 500002
ICD-10: E10
G71.3
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance:
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Maternally-inherited mitochondrial myopathy
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
 -Rare neurologic disease
Muscular lipidosis
 -Rare genetic disease
 -Rare neurologic disease
Other rare diabetes mellitus
 -Rare endocrine disease
Rare genetic diabetes mellitus
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0012507) Weakness of orbicularis oculi muscle 1 / 7739
2
 (HPO:0010628) Facial palsy 146 / 7739
3
 (HPO:0001263) Global developmental delay 853 / 7739
4
 (HPO:0001249) Intellectual disability 1089 / 7739
5
 (HPO:0001315) Reduced tendon reflexes 160 / 7739
6
 (HPO:0002066) Gait ataxia 327 / 7739
7
 (HPO:0001284) Areflexia 198 / 7739
8
 (HPO:0001251) Ataxia 413 / 7739
9
 (HPO:0001260) Dysarthria 329 / 7739
10
 (HPO:0001270) Motor delay 322 / 7739
11
 (HPO:0001265) Hyporeflexia 208 / 7739
12
 (HPO:0006824) Cranial nerve paralysis 81 / 7739
13
 (HPO:0002311) Incoordination 84 / 7739
14
 (HPO:0100651) Type I diabetes mellitus 44 / 7739
15
 (HPO:0005978) Type II diabetes mellitus 68 / 7739
16
 (HPO:0008347) Decreased activity of mitochondrial complex IV 31 / 7739
17
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
18
 (HPO:0003198) Myopathy 151 / 7739
19
 (HPO:0003701) Proximal muscle weakness 105 / 7739
20
 (HPO:0003200) Ragged-red muscle fibers 37 / 7739
21
 (HPO:0001324) Muscle weakness 859 / 7739
22
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
23
 (HPO:0007126) Proximal amyotrophy 29 / 7739
24
 (HPO:0003737) Mitochondrial myopathy 18 / 7739
25
 (HPO:0010547) Muscle flaccidity 466 / 7739
26
 (HPO:0001252) Muscular hypotonia 990 / 7739
27
 (HPO:0003458) EMG: myopathic abnormalities 38 / 7739
28
 (OMIM) Electron microscopy shows abnormal mitochondria with disorganized and vacuolated cristae 1 / 7739
29
 (OMIM) Muscle biopsy shows ragged-red fibers with decreased COX activity 1 / 7739
30
 (OMIM) [DEL]EMG shows myopathic changes 27 / 7739
31
 (OMIM) Intellectual delay 1 / 7739
32
 (OMIM) Muscle shows lipid accumulation 1 / 7739
33
 (OMIM) Decreased activity of complex I and complex IV 1 / 7739
34
 (OMIM) Mitochondria show paracrystalline inclusions 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Worsfold et al. (1973) described a kindred in which persons in 4 generations showed a myopathy with expression ranging from subclinical to moderately severe weakness and wasting clinically resembling facioscapulohumeral dystrophy (158900), but which on ultrastructural grounds had ...
Molecular genetics OMIM In a patient with adult-onset myopathy and diabetes mellitus, Hao et al. (1995) identified a heteroplasmic mutation in the MTTE gene (14709T-C; 590025.0001).

In the family originally reported by Hudgson et al. (1972) with IDDM and ...