Eighteen years old Caucasian man with progressive familial disabling disease

Dr. Raimundo Barbosa Barros
Dr. Raimundo Barbosa Barros

Case presentation

DBS, male, Caucasian, 18 years and 6 months old. The patient had been diagnosed with progressive neurological disease at 8 years of age. He started to walk about age 20 months (delays in waking). Learning disabilities, such as developing speech later than usual and slight mental retardation.

He has a long history of progressive symmetrical weakening of his muscles of inferior members most notably in the proximal musculature of the legs, pelvis, and arms.

By age 9, he required orthotic braces to assist his walking, and by age 17, he was confined to wheelchair ambulation (skeletal deformity).


  1. Which is the most probable clinical diagnosis?
  2. Which is the ECG diagnosis?
  3. Why we observe Prominent QRS Anterior Forces (PAF) and deep and narrow Q waves in I and aVL? Justify.

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Auspicios Institucionales
  • Sociedad Argentina de Cardiología
  • Federación Argentina de Cardiología
  • SIAC
  • Asociación Argentina de Cardiología
  • Latin American Heart Rhythm Society
  • Fundación Barceló - Facultad de Medicina