Autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency

General Information (adopted from Orphanet):

Synonyms, Signs: LGMD2R
LGMD2 due to desmin deficiency
Number of Symptoms 14
OrphanetNr: 363543
OMIM Id: 615325
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Adolescent
Adult
[Orphanet]

Disease classification (adopted from Orphanet):

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

Symptom Information: Sort by abundance 

1
 (HPO:0010628) Facial palsy 146 / 7739
2
 (HPO:0002987) Elbow flexion contracture 64 / 7739
3
 (HPO:0003691) Scapular winging 51 / 7739
4
 (HPO:0003560) Muscular dystrophy 88 / 7739
5
 (OMIM) Rare ventricular extrasystoles 1 / 7739
6
 (HPO:0003676) Progressive disorder 148 / 7739
7
 (OMIM) Limb muscle atrophy 2 / 7739
8
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
9
 (OMIM) Scapular winging, mild 1 / 7739
10
 (OMIM) Type 2 fiber predominance 1 / 7739
11
 (OMIM) Muscle biopsy shows dystrophic features 3 / 7739
12
 (OMIM) No myofibrillar abnormalities or protein aggregation 1 / 7739
13
 (OMIM) Proximal muscle weakness, limb-girdle distribution 1 / 7739
14
 (OMIM) Facial weakness, mild 6 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Cetin et al. (2013) reported 2 Turkish sibs, born of consanguineous parents, with young adult-onset of progressive limb-girdle muscular dystrophy. The 39-year-old proband had developed progressive proximal muscle weakness of the arms and legs at age 15 years. ...
Molecular genetics OMIM In 2 sibs with LGMD2R, Cetin et al. (2013) identified a homozygous splice site mutation in the DES gene (125660.0018). The mutation, which was found by homozygosity mapping followed by candidate gene sequencing, segregated with the disorder and ...