A Boy With Proximal Weakness and Cardiomyopathy
A 14-year-old Caucasian boy presented for the evaluation of muscle weakness. He was born full-term to a 27-year-old multipara. The pregnancy was complicated by spotting during the first trimester as…
A Boy With Large Muscles, Leg Pain, and Elevated Serum Creatine Kinase
A 7-year-old White boy was referred because of an elevated serum creatine kinase (CK). For 6 months he had experienced swelling of the right thumb and later of the first…
A Woman With Proximal Muscle Weakness, Calf Hypertrophy, Heel Contractures, and Elevated Serum Creatine Kinase
A 23-year-old obese White woman was referred because of weakness in the legs, an EMG that showed a “myopathy,” and a very elevated serum creatine kinase (CK) level. She had…
An African American Man With Hyperthyroidism and Acute Paralysis
A 68-year-old African American man developed weakness in the legs that got progressively worse during the 2 days prior to the point that he became unable to walk. He fell…
A Young Woman With Distal Upper Extremity Weakness
A 22-year-old woman presented with an 8-year history of progressive muscle weakness and fatigue, particularly in the hand muscles after physical activities; this became severe over the past year. Her…
A Young Man With Episodic Weakness
An 18-year-old man was evaluated for intermittent muscle weakness that occurred mainly in the mornings after eating pizza the previous night. This started about 6 months earlier. A recent attack…
An Elderly Woman With Ptosis, Areflexia, and Weakness
A 55-year-old nonsmoker African American woman presented with a 2-week history of severe bilateral arm and leg weakness, along with a 4-month history of ptosis and double vision ( Fig….
A Woman With Muscle Weakness and Areflexia
A 52-year-old woman presented with a history of weakness and fatigue in the legs with difficulty going upstairs and downstairs for over 1 year. She also had burning paresthesias in…
An Elderly Woman With Proximal Weakness
A 76-year-old woman presented with a 6-month history of progressive weakness in the arms and legs. Past medical history was positive for hypertension, hypothyroidism, and a left mastectomy for localized…
A Young Woman With Intermittent Weakness and a Positive Family History of Similar Problems
A 22-year-old woman presented with a 3-month history of weakness, some instability of gait, and difficulty swallowing. The symptoms fluctuated somewhat during the day. Past medical history was negative. She…
