Which conditions are no longer considered subtypes of limb-girdle muscular dystrophy (LGMD)?

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

Application of this definition has led to exclusion of 10 conditions from the previous LGMD umbrella, including myofibrillar myopathy (LGMD1E). [3] The new proposed LGMD subtype classification system follows the formula: “LGMD, inheritance (R [recessive] or D [dominant]), order of discovery (number), affected protein.” In the absence of an identified pathogenic gene, phenotypic presentations that fulfill the above definition criteria are referred to as "LGMD unclassified."

Table 1. Conditions that are no longer considered LGMD, as per the definition proposed by the 229th ENMC international workshop, 2017 (Open Table in a new window)

Previous name Gene Reason for exclusion Proposed new name
LGMD1A Myot Distal weakness Myofibrillar myopathy
LGMD1B LMNA High risk of cardiac arrhythmias; EDMD phenotype Emery–Dreifuss muscular dystrophy (EDMD)
LGMD1C CAV3 Main clinical features rippling muscle disease and myalgia Rippling muscle disease
LGMD1E DES Primarily false linkage; distal weakness and cardiomyopathy Myofibrillar myopathy
LGMD1H False linkage Not confirmed
LGMD2R DES Distal weakness Myofibrillar myopathy
LGMD2V GAA Histological changes Pompe disease
LGMD2W PINCH2 Reported in a single family PINCH2-related myopathy
LGMD2X BVES As above BVES-related myopathy
LGMD2Y TOR1AIP1 As above TOR1AIP1-related myopathy

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