Inclusion body myositis

General Information (adopted from Orphanet):

Synonyms, Signs: IBM
Sporadic inclusion body myositis
sIBM
Number of Symptoms 21
OrphanetNr: 611
OMIM Id: 147421
ICD-10: M60.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 0.49 of 100 000 [Orphanet]
Inheritance: Not applicable
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Idiopathic inflammatory myopathy
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0001315) Reduced tendon reflexes Frequent [Orphanet] 160 / 7739
2
(HPO:0001265) Hyporeflexia 208 / 7739
3
(HPO:0002015) Dysphagia Frequent [Orphanet] 301 / 7739
4
(HPO:0002960) Autoimmunity Very frequent [Orphanet] 78 / 7739
5
(HPO:0003202) Skeletal muscle atrophy Very frequent [Orphanet] 281 / 7739
6
(HPO:0002460) Distal muscle weakness 122 / 7739
7
(HPO:0003701) Proximal muscle weakness 105 / 7739
8
(HPO:0003457) EMG abnormality Very frequent [Orphanet] 78 / 7739
9
(HPO:0001324) Muscle weakness Very frequent [Orphanet] 859 / 7739
10
(HPO:0009071) Inflammatory myopathy 2 / 7739
11
(HPO:0003805) Rimmed vacuoles 22 / 7739
12
(HPO:0003326) Myalgia Occasional [Orphanet] 143 / 7739
13
(OMIM) Muscle biopsy shows myodegenerative changes with beta-amyloid and phosphorylated tau deposits 1 / 7739
14
(HPO:0003812) Phenotypic variability 129 / 7739
15
(OMIM) Muscle atrophy, especially quadriceps and forearm muscles 1 / 7739
16
(HPO:0030089) Abnormal muscle fiber protein expression Very frequent [Orphanet] 64 / 7739
17
(OMIM) Muscle biopsy shows inflammation with T cells 1 / 7739
18
(HPO:0003745) Sporadic 131 / 7739
19
(OMIM) Congophilic inclusions 1 / 7739
20
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
21
(HPO:0003677) Slow progression 134 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Sporadic inclusion body myositis (IBM) is the most common age-related muscle disease in the elderly that results in severe disability. Although traditionally considered an inflammatory myopathy, it is now considered to be more consistent with a myodegenerative disease ...
Clinical Description OMIM The vast majority of IBM occurs sporadically; however, rare familial occurrence has been reported. Inclusion body myositis is a slowly progressive inflammatory myopathy characterized clinically by weakness of the proximal parts of the limbs, diminished deep tendon reflexes, ...
Molecular genetics OMIM Garlepp et al. (1995) found the frequency of the apolipoprotein E4 allele to be 0.29 in a group of 14 patients with IBM. This was considerably higher than that found in their control group of other inflammatory diseases ...