Autosomal recessive limb-girdle muscular dystrophy type 2Q

General Information (adopted from Orphanet):

Synonyms, Signs: LGMD2Q
Autosomal recessive limb-girdle muscular dystrophy due to plectin deficiency
Number of Symptoms 16
OrphanetNr: 254361
OMIM Id: 613723
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: Childhood
[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 plectin
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0001270) Motor delay 322 / 7739
2
 (HPO:0002938) Lumbar hyperlordosis 73 / 7739
3
 (HPO:0001371) Flexion contracture 220 / 7739
4
 (HPO:0003236) Elevated serum creatine phosphokinase 214 / 7739
5
 (HPO:0003202) Skeletal muscle atrophy 281 / 7739
6
 (HPO:0003391) Gowers sign 37 / 7739
7
 (HPO:0003701) Proximal muscle weakness 105 / 7739
8
 (HPO:0003324) Generalized muscle weakness 48 / 7739
9
 (HPO:0003551) Difficulty climbing stairs 23 / 7739
10
 (HPO:0006785) Limb-girdle muscular dystrophy 14 / 7739
11
 (HPO:0003560) Muscular dystrophy 88 / 7739
12
 (OMIM) Muscle biopsy shows dystrophic features 3 / 7739
13
 (OMIM) Difficulty climbing stairs, jumping, running 2 / 7739
14
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
15
 (OMIM) Contractures, late-onset 1 / 7739
16
 (HPO:0003678) Rapidly progressive 33 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Limb-girdle muscular dystrophy type 2Q is characterized by early childhood onset of proximal muscle weakness and atrophy without skin involvement. One family has shown rapid progression of the disorder in adolescence (summary by Gundesli et al., 2010). ...
Clinical Description OMIM Gundesli et al. (2010) reported a consanguineous Turkish family in which 4 individuals had autosomal recessive limb-girdle muscular dystrophy with onset in childhood and progression during the teenage years. The proband began walking at age 3 years and ...
Molecular genetics OMIM By homozygosity mapping followed by candidate gene sequencing of a Turkish family with autosomal recessive LGMD, Gundesli et al. (2010) identified a homozygous 9-bp deletion in the PLEC1 gene (601282.0010) as causative of the disorder. Subsequently, affected members ...