Journal
NEUROLOGY
Volume 97, Issue 20, Pages 958-963Publisher
LIPPINCOTT WILLIAMS & WILKINS
DOI: 10.1212/WNL.0000000000012488
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A 59-year-old man presented with progressive weakness, with a family history of muscle weakness but no similar symptoms in his parents, sister, and sons.
A 59-year-old man presented with slowly progressive weakness. During childhood, he had difficulty climbing stairs. At age 30 years, he noted difficulty getting out of a chair or standing up from the floor without using his arms. At age 48 years, he started having 3-4 falls per year. He denied orthopnea and dyspnea. He had well-controlled hypothyroidism and hyperlipidemia. Medications included levothyroxine and niacin, and he denied the use of statins, fibrates, steroids, and alcohol intake. His parents (unrelated), sister, and 2 sons (aged 16 and 18 years) had no weakness. His maternal grandfather had leg weakness with difficulty climbing stairs around age 30 years and was using a wheelchair by age 60 years.
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