Autosomal dominant limb-girdle muscular dystrophy type 1B

General Information (adopted from Orphanet):

Synonyms, Signs: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1B
LGMD1B
Limb-girdle muscular dystrophy due to lamin A/C deficiency
Number of Symptoms 31
OrphanetNr: 264
OMIM Id: 159001
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: < 0.9 of 100 000
Inheritance: Autosomal dominant
10814726 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal dominant limb-girdle muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Neuromuscular disease with dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease

Comment:

Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) and autosomal dominant Emery-Dreifuss muscular dystrophy (EDMD2, AD-EDMD) are allelic disorders. LGMD1B is a slowly progressive limb girdle muscular dystrophy, with age-related atrioventricular cardiac conduction disturbances and the absence of early contractures. AD-ADMD is characterized by early contractures of elbows and Achilles tendons and a humero-peroneal distribution of weakness combined with a cardiomyopathy with conduction defects (PMID:10814726).

Symptom Information: Sort by abundance 

1
 (HPO:0030123) Abnormal muscle fiber lamin A/C 10814726 IBIS 1 / 7739
2
 (HPO:0002650) Scoliosis 19070492 IBIS 705 / 7739
3
 (HPO:0008981) Calf muscle hypertrophy 19070492 IBIS 28 / 7739
4
 (HPO:0003560) Muscular dystrophy 19070492 IBIS 88 / 7739
5
 (HPO:0003202) Skeletal muscle atrophy 19070492 IBIS 281 / 7739
6
 (HPO:0003307) Hyperlordosis 19070492 IBIS 122 / 7739
7
 (HPO:0003701) Proximal muscle weakness 19070492 IBIS 105 / 7739
8
 (HPO:0008956) Proximal lower limb amyotrophy 15832002 IBIS 5 / 7739
9
 (HPO:0003551) Difficulty climbing stairs 19070492 IBIS 23 / 7739
10
 (HPO:0002355) Difficulty walking 19070492 IBIS 61 / 7739
11
 (HPO:0001288) Gait disturbance 15832002 IBIS 318 / 7739
12
 (HPO:0001371) Flexion contracture 19070492 IBIS 220 / 7739
13
 (HPO:0006380) Knee flexion contracture 19070492 IBIS 56 / 7739
14
 (HPO:0006466) Ankle contracture 19070492 IBIS 17 / 7739
15
 (HPO:0003325) Limb-girdle muscle weakness 15832002 IBIS 22 / 7739
16
 (HPO:0001662) Bradycardia 15832002 IBIS 41 / 7739
17
 (HPO:0002875) Exertional dyspnea 15832002 IBIS 29 / 7739
18
 (HPO:0003116) Abnormal echocardiogram 19070492 IBIS 33 / 7739
19
 (HPO:0011704) Sick sinus syndrome 19070492 IBIS 6 / 7739
20
 (HPO:0004756) Ventricular tachycardia 19070492 IBIS 55 / 7739
21
 (HPO:0005150) Abnormal atrioventricular conduction 10814726 IBIS 16 / 7739
22
 (HPO:0001678) Atrioventricular block 15832002 IBIS 59 / 7739
23
 (HPO:0001692) Primary atrial arrhythmia 15832002 IBIS 16 / 7739
24
 (HPO:0004763) Paroxysmal supraventricular tachycardia 15832002 IBIS 10 / 7739
25
 (HPO:0001645) Sudden cardiac death 15832002 IBIS 84 / 7739
26
 (HPO:0001644) Dilated cardiomyopathy 15832002 IBIS 141 / 7739
27
 (HPO:0003236) Elevated serum creatine phosphokinase 19070492 IBIS 214 / 7739
28
 (HPO:0008946) Pelvic girdle amyotrophy 10814726 IBIS 2 / 7739
29
 (HPO:0003749) Pelvic girdle muscle weakness 10814726 IBIS 15 / 7739
30
 (HPO:0003458) EMG: myopathic abnormalities 10814726 IBIS 38 / 7739
31
 (HPO:0003677) Slow progression 10814726 IBIS 134 / 7739

Associated genes:

LMNA;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference
LMNA rs267607539 pathogenic RCV000015589.25
LMNA rs267607551 pathogenic RCV000015588.25
LMNA rs267607581 likely pathogenic RCV000154514.1
LMNA rs267607592 pathogenic RCV000150954.1
LMNA rs56699480 pathogenic RCV000015609.21
LMNA rs58048078 pathogenic RCV000015605.21
LMNA rs60458016 pathogenic RCV000015624.25
LMNA rs60682848 pathogenic RCV000194831.1
LMNA rs61672878 pathogenic RCV000015586.25
LMNA rs797044758 pathogenic RCV000178907.1

Additional Information:

Clinical Description OMIM Van der Kooi et al. (1996, 1997) described the clinical picture of 3 families with autosomal dominant LGMD associated with cardiac involvement. In affected individuals, symmetric weakness started in the proximal lower-limb muscles before the age of 20 ...
Molecular genetics OMIM In 3 LGMD1B families linked to markers on chromosome 1q11-q21, Muchir et al. (2000) identified mutations in the LMNA gene: a missense mutation (150330.0017), a deletion of a codon (150330.0018), and a splice donor site mutation (150330.0019). The ...