How is limb-girdle muscular dystrophy (LGMD) currently classified?

Updated: Aug 15, 2019
  • Author: Monica Saini, MD, MBBS, MRCP(UK); Chief Editor: Nicholas Lorenzo, MD, MHA, CPE  more...
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Answer

Table 2. New classification of LGMD with relevant affected protein (Open Table in a new window)

LGMDD (previous name) LGMDR (previous name)

LGMD D1-DNAJB6; 7q36 [LGMD1E, 1D]    

LGMD D2-TNPO3; 7q32 [LGMD1F]    

LGMD D3-HNRPDL; 4q21 [LGMD1G]    

LGMD D4-Calpain-3; 15q15 [LGMD1I]   

 

LGMD D5 (Bethlem):

COL6A1: 21q22     

COL6A2: 21q22     

COL6A3: 2q37

R1 (2A): Calpain-3; 15q15

R2 (2B): Dysferlin; 2p13

R3 (2D): α-Sarcoglycan; 17q21

R4 (2E): β-Sarcoglycan; 4q12

R5 (2C): γ-Sarcoglycan; 13q12

R6 (2F): δ-Sarcoglycan; 5q33

R7 (2G): Telethonin; 17q12

R8 (2H): TRIM32; 9q33

R9 (2I; MDDGC5): FKRP; 19q13

R10 (2J): Titin; 2q24

R11 (2K; MDDGC1): POMT1; 9q34

R12 (2L): ANO5; 11p14

R13 (2M; MDDGC4): Fukutin; 9q31

R14 (2N; MDDGC2): POMT2; 14q24

R15 (2O; MDDGC3): POMGnT1; 1p32

R16 (2P; MDDGC9): DAG1; 3p21

R17 (2Q): Plectin 1f; 8q24

R18 (2S): TRAPPC11; 4q35

R19 (2T): GMPPB; 3p21

R20 (2U): ISPD; 7p21

R21 (2Z): POGLUT1; 3q13

R22: COL6A2; 21q22

R23: LAMA2; 6q22

R24: POMGNT2; 3p22  
   

The old classification system, with reference to new nomenclaure, is retained here for description.

Although not truly limb-girdle syndromes, diseases classified as myofibrillar myopathies share several phenotypic characteristics with the LGMDs. They are usually adult-onset diseases with slowly progressive weakness involving proximal (and distal) muscles. Many patients have respiratory failure, cardiomyopathy, and neuropathy. Some mutations can cause both a myofibrillar myopathy and a muscular dystrophy phenotype. X-linked limb girdle dystrophies (dystrophinopathies, Emery–Dreifuss, McLeods Syndrome, and vacuolar) are described elsewhere.


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