A 38-year-old male visited our clinic for asymmetric upper extremity weakness. The patient reported that, at the age of nine, he had difficulty performing iron bar gymnastics. Since his third decade, he experienced prominent right shoulder and arm weakness, and he presented with facial asymmetry and weakness. Physical examination showed a transverse smile, positive Beevor's sign, and winged scapula (). In addition, he showed facial and bilateral arm and leg weakness with proximal dominance and asymmetricity (right side more severe than the left) on neurological examination. Serum creatinine kinase levels were mildly elevated at 224 unit/L. His mother and elder sister had similar symptoms (). We performed genetic analysis for FSHD. Southern blotting analysis by the EcoRI/BlnI digestion method using genomic DNA revealed that a fragment size of 37 kb, and the number of D4Z4 repeats was nine. Bisulfite sequencing to determine the haplotype of D4Z4 using digestion with HindIII and hybridized with 4qA probe and target sequencing analysis to screen for mutations in the SMCHD1 gene by a next-generation sequencer (Ion PGMTM) were performed for FSHD2 diagnosis. We found reduced DNA methylation ratio (16.8%), D4Z4 haplotype 4qA (homozygous), and c.1580C>T (p.T527M) SMCHD1 mutation, which was previously reported to be a pathogenic allele.\nInformed consent was obtained from the two patients regarding the reporting and publication of this case report.
Patient 4 was a 46-yr-old man presenting with progressive limb muscle weakness developed in his early twenties. He first noticed a difficulty in raising his arm above his head. There was no known family history of neuromuscular disease in his parents, five sibs, and two daughters (). The neurological examination was remarkable for mild (MRC grade 4) weakness of proximal upper limb muscles and humeral atrophy. Other remarkable findings included anterior axillary folds, asymmetric winged scapulae, trapezius hump sign, Beever's sign, and hypoactive deep tendon reflexes. There was no facial weakness. The serum CK was 170 IU/L. The FVC was 4.19 L (87% of predicted). Electrocardiogram, echocardiogram, and nerve conduction studies were normal. Needle electromyography showed chronic myopathic changes.