Facioscapulohumeral Muscular Dystrophy: Report of Two Cases

Choi, Chang Uk; Kwon, Jae Uk; Kwon, Hyuksool; Lee, Suk Ho

doi:10.4055/jkoa.1991.26.4.1354

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“…Considering that genomic structure of D4Z4 repeat in chromosomes 4 and 10 in Koreans is similar to that in Japanese, the frequency of FSHD might not be different from that in Japan ( 26 ). However, there are only limited reports on the FSHD in Korea ( 14 , 15 ). Therefore, more efforts should be made to identify and to diagnose Korean patients with FSHD by genetic analysis…”

Section: Discussionmentioning

confidence: 99%

Clinical and Genetic Analysis of Korean Patients with Facioscapulohumeral Muscular Dystrophy

Lee

Kim

et al. 2008

J Korean Med Sci

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Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominantly inherited muscular disorder, which is characterized by weakness of facial, shoulder and hip girdle, humeral, and anterior distal leg muscles. The FSHD gene has been mapped to 4q35 and a deletion of integral copies of a 3.3-kb DNA repeat motif named D4Z4 was known to be the genetic background of the disorder. Although FSHD is the second most common muscular dystrophy in adulthood, there were few reports on the genetically confirmed patients in Korea. Recently, we experienced four Korean patients with clinical features resembling FSHD. In order to confirm the diagnosis, conventional Southern blot (SB) analysis by using double digestion with EcoRI and BlnI and hybridization with p13E-11 probe was performed in three patients and newly developed long polymerase chain reaction (PCR) method was used for one patient because genomic DNA was not enough for conventional SB for this patient. All patients were demonstrated to have shortened D4Z4 repeats that were consistent with FSHD. Therefore, we could confirm the diagnosis of FSHD in four Korean patients and appropriate genetic counseling was done for the patients and their families. It is of note that long-PCR method could be a good alternative for conventional SB when D4Z4 repeats were less than 5.

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Section: Discussionmentioning

confidence: 99%