Autosomal dominant limb-girdle muscular dystrophy type 1F

General Information (adopted from Orphanet):

Synonyms, Signs: LGMD1F
Number of Symptoms 23
OrphanetNr: 55595
OMIM Id: 608423
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 1 family [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Childhood
Adolescent
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:0001371) Flexion contracture rare [HPO:skoehler] 220 / 7739
2
 (HPO:0003691) Scapular winging 51 / 7739
3
 (HPO:0003306) Spinal rigidity rare [HPO:skoehler] 30 / 7739
4
 (HPO:0003547) Shoulder girdle muscle weakness 21 / 7739
5
 (HPO:0001939) Abnormality of metabolism/homeostasis 328 / 7739
6
 (HPO:0002747) Respiratory insufficiency due to muscle weakness rare [HPO:skoehler] 48 / 7739
7
 (HPO:0003805) Rimmed vacuoles 22 / 7739
8
 (HPO:0003687) Centrally nucleated skeletal muscle fibers 15 / 7739
9
 (HPO:0003736) Autophagic vacuoles 5 / 7739
10
 (HPO:0003810) Late-onset distal muscle weakness 4 / 7739
11
 (HPO:0003458) EMG: myopathic abnormalities 38 / 7739
12
 (HPO:0003560) Muscular dystrophy 88 / 7739
13
 (HPO:0003749) Pelvic girdle muscle weakness 15 / 7739
14
 (HPO:0009025) Increased connective tissue 11 / 7739
15
 (HPO:0003621) Juvenile onset 105 / 7739
16
 (OMIM) Respiratory muscles may be involved (more common in juvenile-onset) 1 / 7739
17
 (OMIM) Rimmed vacuoles may occur 1 / 7739
18
 (HPO:0003581) Adult onset 117 / 7739
19
 (OMIM) [DEL]EMG shows myopathic changes 27 / 7739
20
 (OMIM) Biopsy shows myopathic changes 2 / 7739
21
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
 (OMIM) Serum creatine kinase may be normal or elevated 1 / 7739
23
 (OMIM) Distal muscle weakness occurs later 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Clinical Description OMIM Gamez et al. (2001) reported a large Spanish kindred in which 32 members spanning 5 generations were affected with autosomal dominant limb-girdle muscular dystrophy. Two forms were delineated based on age at onset: a juvenile form with onset ...