Autosomal dominant limb-girdle muscular dystrophy type 1D

General Information (adopted from Orphanet):

Synonyms, Signs: LGMD1D, FORMERLY
MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1D, FORMERLY
LGMD1D
LGMD1E
Number of Symptoms 25
OrphanetNr: 34516
OMIM Id: 603511
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 5 families [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Adult
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant limb-girdle muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
(HPO:0002515) Waddling gait 56 / 7739
2
(HPO:0002015) Dysphagia 301 / 7739
3
(HPO:0003547) Shoulder girdle muscle weakness 21 / 7739
4
(HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
5
(HPO:0003805) Rimmed vacuoles 22 / 7739
6
(HPO:0003749) Pelvic girdle muscle weakness 15 / 7739
7
(HPO:0003555) Muscle fiber splitting 11 / 7739
8
(HPO:0003391) Gowers sign 37 / 7739
9
(HPO:0003551) Difficulty climbing stairs 23 / 7739
10
(HPO:0003560) Muscular dystrophy 88 / 7739
11
(HPO:0003677) Slow progression 134 / 7739
12
(OMIM) [DEL]Myopathic changes seen on EMG 3 / 7739
13
(OMIM) Tubulofilamentous inclusions 1 / 7739
14
(OMIM) Myofibrillar disintegration 1 / 7739
15
(OMIM) Dystrophic changes 1 / 7739
16
(OMIM) Inclusions are TDP43-immunoreactive 1 / 7739
17
(HPO:0000006) Autosomal dominant inheritance 2518 / 7739
18
(OMIM) Internal nuclei 9 / 7739
19
(OMIM) Muscle fiber splitting and fibrosis seen on muscle biopsy 1 / 7739
20
(OMIM) Distal muscle weakness and atrophy may occur, upper and lower limbs affected 1 / 7739
21
(HPO:0003581) Adult onset 117 / 7739
22
(OMIM) Z-disc streaming 1 / 7739
23
(OMIM) Fatty replacement 3 / 7739
24
(OMIM) Variation in fiber size 8 / 7739
25
(OMIM) Inclusions are DNAJB6-immunoreactive 1 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) LGMD1E is an autosomal dominant disorder characterized by adult onset of proximal muscle weakness, beginning in the hip girdle region and later progressing to the shoulder girdle region (Speer et al., 1999).

For a phenotypic description ...

Clinical Description OMIM Schneiderman et al. (1969) reported a large 4-generation family with slowly progressive autosomal dominant limb-girdle muscular dystrophy. Symptom onset generally occurred during the third decade, with muscular weakness affecting both the upper and lower limbs, although most affected ...
Molecular genetics OMIM In affected members of a Caucasian family with autosomal dominant limb-girdle muscular dystrophy, type 1E, Harms et al. (2012) identified a heterozygous mutation in the DNAJB6 gene (F93L; 611332.0001). The mutation was identified by whole-genome exome capture followed ...