An elderly-onset limb girdle muscular dystrophy type 1B (LGMD1B) with pseudo-hypertrophy of paraspinal muscles.
Mutations in LMNA, encoding A-type lamins, lead to diverse disorders, collectively called "laminopathies," which affect the striated muscle, cardiac muscle, adipose tissue, skin, peripheral nerve, and premature aging. We describe a patient with limb-girdle muscular dystrophy type 1B (LGMD1B) carrying a heterozygous p.Arg377His mutation in LMNA, in whom skeletal muscle symptom onset was at the age of 65 years. Her weakness started at the erector spinae muscles, which showed marked pseudo-hypertrophy even at the age of 72 years. Her first episode of syncope was at 44 years; however, aberrant cardiac conduction was not revealed until 60 years. The p.Arg377His mutation has been previously reported in several familial LMNA-associated myopathies, most of which showed muscle weakness before the 6th decade. This is the first report of pseudo-hypertrophy of paravertebral muscles in LMNA-associated myopathies. The pseudo-hypertrophy of paravertebral muscles and the elderly-onset of muscle weakness make this case unique and reportable.
['Furuta|Mitsuru|M|', 'Sumi-Akamaru|Hisae|H|', 'Takahashi|Masanori P|MP|', 'Hayashi|Yukiko K|YK|', 'Nishino|Ichizo|I|', 'Mochizuki|Hideki|H|']
D000368:Aged D003937:Diagnosis, Differential D005260:Female D006801:Humans D006984:Hypertrophy D034904:Lamin Type A D049288:Muscular Dystrophies, Limb-Girdle D009154:Mutation D064170:Paraspinal Muscles
Pseudo-hypertrophy LMNA Laminopathy Limb-girdle muscular dystrophy type 1B Late-onset