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Showing posts with the label PPS

Case Narrative: Post-Polio Syndrome After 73 Years of Misdiagnosis

Patient History The patient is a 76-year-old female with a lifelong history of progressive skeletal muscle weakness, first noted following a febrile illness at age six. The illness lasted over three weeks and was initially diagnosed as influenza by her primary physician, though a consulting doctor expressed concern that it may have been more serious. No further investigations were conducted at that time. Post-illness, the patient developed persistent fatigue in the lower limbs, difficulty climbing stairs, lifting objects, restricted range of motion, and poor exercise tolerance. By early school age, she required assistance to climb stairs and, by age eight, was unable to walk 700 meters without rest due to lower limb weakness and paresthesias. Psychosocial Context Despite clear functional impairments, the patient received no medical explanation for her symptoms throughout childhood. Family members and healthcare providers attributed her condition to deconditioning, encouraging incr...

Is ME CFS connected to Spinal Muscular Atrophy (SMA) or Post Polio?

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My Journey Toward Understanding Spinal Muscular Atrophy (SMA) Today, I better understand why Spinal Muscular Atrophy (SMA) received so little attention, particularly during the 1950s. This complex and debilitating genetic disorder was poorly understood, and patients’ symptoms could easily be minimized, misinterpreted, or dismissed. Even today, SMA can present significant diagnostic challenges, particularly in adults with complex medical histories. In my own experience, comprehensive investigations into the underlying cause of progressive muscle weakness were not always pursued. A Long and Complicated Diagnostic Journey In 2008, while being investigated for permanent adrenal insufficiency, an MRI ordered by my endocrinologist unexpectedly revealed Chiari Malformation II .  I underwent surgery in 2009, but unfortunately, my symptoms did not improve. In 2010, a DNA test identified a genetic marker involving the ACTN3 gene . Further information about ACTN3 and its possible relation...