Leiden Muscular Dystrophy pages©

Limb-Girdle muscular dystrophy

(last modified December 10, 2006)



The Congenital Muscular Dystrophies (CMD) and the Limb-Girdle Muscular Dystrophies (LGMD) are common forms of highly heterogeneous muscular dystrophies which can be distinguished by their age at onset. In CMD, onset of symptoms is at birth or within the first 6 months of life; in LGMD onset of symptoms is in late childhood, adolescence or even adult life. Inheritance in LGMD can be autosomal dominant (LGMD type 1) or autosomal recessive (LGMD type 2), CMD is always recessively inherited. Recent data show that CMD and LGMD can overlap both clinically and genetically, which suggests that the underlying pathology may follow similar pathways. Several of the phenotypically similar but genetically distinct LGMDs have been shown to be caused by abnormalities of the plasma membrane of the muscle fiber, destroying the so called dystrophin-associated glycoprotein complex (DGC).


Type 1 - autosomal dominant

Type 2 - autosomal recessive

Autosomal recessive inheritance with heterogeneous clinical features. In severe form, onset at age 3 to 5 years (SCARMD). In mild forms onset in the first, second or third decade of life. There is a significant variability of clinical features in unrelated patients and within families.

Tabular overview

(OMIM link)
Chromosomal location Gene
Age at
CK level Distinctive feature At these pages
LGMD-1A 5q31.2 TTID 20-40y normal - 10x dysarthria TTID  /  TTID variation DB
LGMD-1B 1q22  LMNA <10y normal - 20x contractures LMNA  /  LMNA variation DB
LGMD-1C 3p25.3 CAV3 <10y 2 - 25x mounding / rippling CAV3  /  CAV3 variation DB
LGMD-1D 7q ? 15-50y normal - 4x cardiomyopathy  
LGMD-1E 6q22 ? 30-50y normal - 10x -  
LGMD-1F (not in OMIM) 7q31.1 ?        
LGMD-1F (not in OMIM) 4p21 ?        
LGMD-2A 15q15.2 CAPN3 5-40y normal - 50x adductor weakness CAPN3  /  CAPN3 variation DB
LGMD-2B, MM 2p13.2  DYSF 10-30y 10 - 150x distal leg weakness DYSF  /  DYSF variation DB
LGMD-2C 13q12 SGCG 3-20y 5 - 120x - SGCG  /  SGCG variation DB
LGMD-2D 17q21.33 SGCA SGCA  /  SGCA variation DB
LGMD-2E 4q11  SGCB SGCB  /  SGCB variation DB
LGMD-2F 5q33.3 SGCD SGCD  /  SGCD variation DB
LGMD-2G 17q12 TCAP 2-15y 2 - 30x in Brazilians TCAPTCAP variation DB
LGMD-2H 9q33.1 TRIM32 15-30y normal - 20x in Hutterite TRIM32  /  TRIM32 variation DB
LGMD-2I 19q13.32 FKRP 1-40y 5 - 40x respiratory dysfunction FKRP  /  FKRP variation DB
LGMD-2J (not in OMIM) 2q24.3-31 TTN 5-20y normal - 2x in Finns  

Most data are as reported by Wicklund et al. (2003)

Frequency of LGMD's

Duggan et al. (1997) reported that in a set of 263 patients with a dystrophinopathy-like disorder (DLMD or LGMD) and normal dystrophin, 25 (10%) showed a complete and 29 (11%) a partial alpha-sarcoglycan deficiency in muscle biopsy samples. In a group of 38 autosomal recessive Turkish LGMD families Dincer et al. (2000) detected 7 CAPN3, 3 DYSF, 2 SGCA, 7 SGCB, 5 SGCG, 1 SGCD and 2 LAMA2 deficiencies. Two families showed an EMD-like phenotype and 9 had preserved sarcoglycans and no linkage to LGMD2A-F loci. 


| Top of page | LMDp home page |
| Diseases on these pages | Gene / disease table | Muscular Dystrophy databases |
| Remarks / information | Copyright©, liability |