Autosomal recessive limb-girdle muscular dystrophy type 2M

General Information (adopted from Orphanet):

Synonyms, Signs: MDDGC4
LGMD2M
Muscular dystrophy, limb-girdle, type 2M
Number of Symptoms 29
OrphanetNr: 206554
OMIM Id: 611588
ICD-10: G71.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 9 cases - PMID: 23746544 [IBIS]
Inheritance: Autosomal recessive
- PMID: 24843229 [IBIS]
Age of onset:

Disease classification (adopted from Orphanet):

Parent Diseases: Autosomal recessive limb-girdle muscular dystrophy
 -Rare genetic disease
 -Rare neurologic disease
Congenital disorder of glycosylation with dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Congenital disorder of glycosylation with neurological involvement
 -Rare genetic disease
 -Rare neurologic disease
Disorder of O-mannosylglycan synthesis
 -Rare genetic disease
Neuromuscular disease with dilated cardiomyopathy
 -Rare cardiac disease
 -Rare genetic disease
Qualitative or quantitative defects of fukutin
 -Rare genetic disease

Comment:

Outside Japan, the prevalence of muscular dystrophies related to aberrations of FKTN is rare, with only eight reported cases of limb girdle phenotype, LGMD2M (PMID:23746544). Patients show symmetric and diffuse muscle involvement that deteriorates with acute febrile illness (PMID:24843229).

Symptom Information: Sort by abundance 

1
 (HPO:0003722) Neck flexor weakness 23746544 IBIS 13 / 7739
2
 (HPO:0001315) Reduced tendon reflexes 19342235 IBIS 160 / 7739
3
 (HPO:0001270) Motor delay 17044012 IBIS 322 / 7739
4
 (HPO:0002515) Waddling gait 23746544 IBIS 56 / 7739
5
 (HPO:0003307) Hyperlordosis 23746544 IBIS 122 / 7739
6
 (HPO:0003306) Spinal rigidity 23746544 IBIS 30 / 7739
7
 (HPO:0008981) Calf muscle hypertrophy 23746544 IBIS 28 / 7739
8
 (HPO:0001371) Flexion contracture 23746544 IBIS 220 / 7739
9
 (HPO:0000767) Pectus excavatum 19342235 IBIS 244 / 7739
10
 (HPO:0002938) Lumbar hyperlordosis Occasional [IBIS] 22% (n=9) 23746544 IBIS 73 / 7739
11
 (HPO:0003691) Scapular winging 23746544 IBIS 51 / 7739
12
 (HPO:0001761) Pes cavus 20961758 IBIS 225 / 7739
13
 (HPO:0001644) Dilated cardiomyopathy Occasional [IBIS] 26050665 IBIS 141 / 7739
14
 (HPO:0001649) Tachycardia 23746544 IBIS 53 / 7739
15
 (HPO:0001716) Wolff-Parkinson-White syndrome 23746544 IBIS 21 / 7739
16
 (HPO:0012665) Moderately reduced ejection fraction 23746544 IBIS 4 / 7739
17
 (HPO:0003236) Elevated serum creatine phosphokinase Very frequent [IBIS] 100% (n=9) 23746544 IBIS 214 / 7739
18
 (HPO:0001324) Muscle weakness 26050665 IBIS 859 / 7739
19
 (HPO:0003712) Skeletal muscle hypertrophy 19342235 IBIS 42 / 7739
20
 (HPO:0100293) Muscle fiber hypertrophy 19342235 IBIS 6 / 7739
21
 (HPO:0003391) Gowers sign 23746544 IBIS 37 / 7739
22
 (HPO:0006785) Limb-girdle muscular dystrophy 23746544 IBIS 14 / 7739
23
 (HPO:0008947) Infantile muscular hypotonia 17044012 IBIS 482 / 7739
24
 (HPO:0012548) Fatty replacement of skeletal muscle 23746544 IBIS 8 / 7739
25
 (HPO:0003701) Proximal muscle weakness 23746544 IBIS 105 / 7739
26
 (HPO:0001252) Muscular hypotonia 17044012 IBIS 990 / 7739
27
 (HPO:0003560) Muscular dystrophy 23746544 IBIS 88 / 7739
28
 (HPO:0030092) Reduced muscle fiber merosin 23746544 IBIS 1 / 7739
29
 (HPO:0030046) Hypoglycosylation of alpha-dystroglycan 23746544 IBIS 3 / 7739

Associated genes:

FKTN;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) MDDGC4 is an autosomal recessive muscular dystrophy with onset in infancy or early childhood. Cognition and brain structure are usually normal (Godfrey et al., 2006). It is part of a group of similar disorders resulting from defective glycosylation ...
Clinical Description OMIM Godfrey et al. (2006) reported 3 children from 2 unrelated families with autosomal recessive limb-girdle muscular dystrophy. All developed hypotonia and muscle weakness in infancy between ages 4 and 10 months. Two patients presented with severe acute motor ...
Molecular genetics OMIM In 3 patients with limb-girdle muscular dystrophy, Godfrey et al. (2006) identified compound heterozygosity for 2 mutations in the FKTN gene (607440.0005; 607440.0008; 607440.0009). The authors noted that the phenotype was much less severe than that observed in ...