What is the prevalence 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

Autosomal recessive LGMDs (LGMDR) are more common than the autosomal dominant forms of the disease (LGMDD), which probably account for about 10% of all LGMDs. The pooled prevalence of LGMD syndromes has been estimated to be 1.63 per 100,000 (range 0.56–5.75).

Different populations often have different frequencies of the various LGMDs.

Several studies throughout the world have estimated the frequency of LGMDs based on immunochemical and genetic testing. [5, 6, 7, 8, 9] In many studies, LGMD2A is the most common, accounting for 8–26% of all LGMDs. In some populations, it may be the only LGMD present (Reunion Island, Basque Country) with very high prevalence rates (48–69 cases per million). LGMD2B is also relatively common, accounting for 3–19% of all LGMDs. LGMD2I is common in certain parts of Northern Europe (Denmark and parts of England), but worldwide frequencies outside this area account for 3–8% of all LGMDs.

The sarcoglycanopathies as a group (LGMD2C-LGMD2F) are a common cause of LGMDs, accounting for 3–18%, with a high percentage of severe cases. As with other LGMDs, different sarcoglycanopathies are overrepresented or underrepresented in different populations, with some populations having representative cases of all 4 sarcoglycanopathies and other populations having only 1 mutation type, which is probably related to founder effects and population inbreeding (consanguinity). LGMD2C is common in Tunisia; LGMD2D is common in Europe, the United States, and Brazil; and LGMD2E and LGMD2F are common in Brazil. Overall, LGMD2D (α-sarcoglycanopathy) is twice as common as LGMD2C (γ-sarcoglycanopathy) and LGMD2E (β-sarcoglycanopathy), and LGMD2F (δ-sarcoglycanopathy) is the rarest.

All the congenital muscular dystrophies can present with a LGMD phenotype, and OMIM recognizes 4 at this time (LGMD2I, LGMD2K, LGMD2M, LGMD2N).


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