Autosomal recessive limb-girdle muscular dystrophy type 2J

General Information (adopted from Orphanet):

Synonyms, Signs: LGMD2J
Number of Symptoms 17
OrphanetNr: 140922
OMIM Id: 608807
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive inheritance
[Omim]
Age of onset: Childhood onset
[Omim]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive limb-girdle muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Qualitative or quantitative defects of titin
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001637) Abnormality of the myocardium 76 / 7739
2
 (HPO:0001638) Cardiomyopathy 192 / 7739
3
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
4
 (HPO:0003458) EMG: myopathic abnormalities 38 / 7739
5
 (HPO:0002460) Distal muscle weakness 122 / 7739
6
 (HPO:0003701) Proximal muscle weakness 105 / 7739
7
 (HPO:0003560) Muscular dystrophy 88 / 7739
8
 (OMIM) [DEL]EMG shows myopathic changes 27 / 7739
9
 (HPO:0011463) Childhood onset 65 / 7739
10
 (OMIM) No facial muscle involvement 1 / 7739
11
 (OMIM) Fatty infiltration of affected muscles 1 / 7739
12
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
13
 (OMIM) Secondary decrease of calpain-3 (CAPN3, 114240) protein expression in muscle 1 / 7739
14
 (OMIM) Distal muscle weakness, mild 1 / 7739
15
 (OMIM) Normal or increased serum creatine kinase 3 / 7739
16
 (OMIM) Severe disability within 20 years of onset 1 / 7739
17
 (OMIM) Loss of ambulation between third and sixth decade 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Udd et al. (1991, 1992) reported a large consanguineous Finnish pedigree in which 12 members had mild late-onset distal tibial myopathy (see TMD) inherited in an autosomal dominant pattern and 8 members had a severe limb-girdle muscular dystrophy ...
Molecular genetics OMIM In patients with LGMD2J from the large Finnish family reported by Udd et al. (1992), Hackman et al. (2002) identified homozygosity for an 11-bp deletion/insertion in the last exon (exon 363) of the TTN gene (188840.0004). Family members ...