Hereditary inclusion body myopathy - joint contractures - ophthalmoplegia

General Information (adopted from Orphanet):

Synonyms, Signs: MYOPATHY WITH CONGENITAL JOINT CONTRACTURES, OPHTHALMOPLEGIA, AND RIMMED VACUOLES
HIBM3
IBM3
Hereditary inclusion body myopathy type 3
Inclusion body myopathy type 3
Number of Symptoms 13
OrphanetNr: 79091
OMIM Id: 605637
ICD-10: G71.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 19 cases [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Inclusion myopathy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000467) Neck muscle weakness 29 / 7739
2
 (HPO:0002058) Myopathic facies 26 / 7739
3
 (HPO:0000218) High palate 356 / 7739
4
 (HPO:0000508) Ptosis rare [HPO:skoehler] 459 / 7739
5
 (HPO:0002515) Waddling gait rare [HPO:skoehler] 56 / 7739
6
 (HPO:0003691) Scapular winging rare [HPO:skoehler] 51 / 7739
7
 (HPO:0002650) Scoliosis rare [HPO:skoehler] 705 / 7739
8
 (HPO:0003324) Generalized muscle weakness 48 / 7739
9
 (HPO:0002460) Distal muscle weakness rare [HPO:skoehler] 122 / 7739
10
 (HPO:0003701) Proximal muscle weakness 105 / 7739
11
 (HPO:0003198) Myopathy 151 / 7739
12
 (HPO:0100299) Muscle fiber inclusion bodies 3 / 7739
13
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Hereditary IBM constitutes a heterogeneous group of disorders histologically characterized by muscle fibers with rimmed vacuoles and inclusions consisting of filaments with a diameter of 15 to 21 nm. Autosomal recessive inheritance has been described in a quadriceps-sparing ...
Clinical Description OMIM Darin et al. (1998) described a multigeneration Swedish family with an apparently novel myopathy inherited as an autosomal dominant. The characteristic clinical features were congenital joint contractures, which normalized during early childhood, external ophthalmoplegia, and proximal muscle weakness. ...
Molecular genetics OMIM Martinsson et al. (2000) reported that morphologic analysis of muscle biopsies from the family reported by Darin et al. (1998) indicated that type 2A fibers were frequently abnormal, whereas other fiber types appeared normal. This observation prompted them ...