Autosomal dominant limb-girdle muscular dystrophy type 1A

General Information (adopted from Orphanet):

Synonyms, Signs: MUSCULAR DYSTROPHY, PROXIMAL, TYPE 1A
LGMD1A
LGMD1
Limb-girdle muscular dystrophy due to myotilin deficiency
Number of Symptoms 23
OrphanetNr: 266
OMIM Id: 159000
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 2 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
Qualitative or quantitative defects of myotilin
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0003438) Absent Achilles reflex 9 / 7739
2
 (HPO:0001260) Dysarthria 329 / 7739
3
 (HPO:0008376) Nasal, dysarthic speech 8 / 7739
4
 (HPO:0001265) Hyporeflexia 208 / 7739
5
 (HPO:0001284) Areflexia 198 / 7739
6
 (HPO:0001315) Reduced tendon reflexes 160 / 7739
7
 (HPO:0003547) Shoulder girdle muscle weakness 21 / 7739
8
 (HPO:0001771) Achilles tendon contracture 27 / 7739
9
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
10
 (HPO:0003458) EMG: myopathic abnormalities 38 / 7739
11
 (HPO:0003555) Muscle fiber splitting 11 / 7739
12
 (HPO:0003749) Pelvic girdle muscle weakness 15 / 7739
13
 (HPO:0003810) Late-onset distal muscle weakness 4 / 7739
14
 (HPO:0003805) Rimmed vacuoles 22 / 7739
15
 (HPO:0003560) Muscular dystrophy 88 / 7739
16
 (HPO:0003581) Adult onset 117 / 7739
17
 (OMIM) Muscle biopsy shows degeneration of muscle fibers, variation in fiber size, fiber splitting, rimmed vacuoles, and central myonuclei 1 / 7739
18
 (OMIM) Distal muscle weakness occurs later 2 / 7739
19
 (OMIM) Increased CK-MB 1 / 7739
20
 (HPO:0003677) Slow progression 134 / 7739
21
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
22
 (OMIM) [DEL]EMG shows myopathic changes 27 / 7739
23
 (HPO:0001425) Heterogeneous 132 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) LGMD1 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. Distal muscle weakness may occur later.

Daniele et ...
Diagnosis OMIM Falk et al. (1998) proposed the methods of artificial neural-network analysis to determine disease status in conditions such as LGMD1A where there is confusion because of variability in diagnostic criteria, age at onset, and differential presentation of disease. ...
Clinical Description OMIM Bacon and Smith (1971) reported a late-onset familial muscular dystrophy with features of a limb-girdle type. DeCoster et al. (1974) described a family with late-onset limb-girdle muscular dystrophy in 9 males of 6 sibships in 3 generations. Changes ...
Molecular genetics OMIM In the large family with LGMD1A first reported by Gilchrist et al. (1988), Hauser et al. (2000) identified a mutation in the myotilin gene (604103.0001) that segregated with the disease.

Of 42 families with autosomal dominant ...