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

Patient History

The patient is a 76-year-old female who presented with a history of progressive skeletal muscle weakness beginning in early childhood. The onset of symptoms was associated with a febrile illness at age 5, lasting more than three and a half weeks. At that time, the primary physician diagnosed influenza. A consulting physician expressed concern that the illness was more serious, but no further investigations were performed.

Following this illness, the patient experienced persistent fatigue, difficulty with stair climbing, and poor exercise tolerance. During her early school years, she frequently required assistance to ascend stairs. By age 8, she reported an inability to walk 700 meters at a steady pace without stopping to rest due to lower limb weakness and tingling sensations.

Psychosocial Context

Despite ongoing functional limitations, the patient was not provided with a medical explanation. Family members and physicians encouraged her to exercise more and “strengthen her muscles.” As a result, she internalized feelings of inadequacy and was frequently labeled as lazy by peers and adults. The patient recalls her mother expressing impatience about her cold extremities and mocking her need for additional clothing even in warm weather.

These psychosocial stressors compounded the physical disability, leading to avoidance of jobs requiring prolonged standing or physical exertion. She describes the most disabling period occurring during her first pregnancy at age 20, when ambulation became severely impaired.

Diagnostic Workup (2008–2022)

• 2008 (USA): Diagnosed with Chiari I Malformation. This was considered a potential cause of weakness but did not fully explain the clinical picture.

• 2010 (Genetic Testing): Identified ACTN3 single nucleotide polymorphism, associated with altered muscle performance. This was interpreted as contributory but not causative.

• 2016 (UNMH, USA/NM): Diagnosis of myalgia.

• 2019 (Germany): During the COVID-19 pandemic, worsening skeletal muscle weakness was misattributed to bilateral scapular ganglion cysts.

• July 2022 (Germany): EMG excluded myasthenia gravis. Clinical documentation noted:

  “The patient is extremely sensitive to pain, screams loudly with almost every needle movement, but does not abort the examination despite repeated reminders that she can stop the procedure at any time.”
  No clear explanation was provided for her progressive weakness.

Clinical Features (Progressive Course)

• Musculoskeletal: Chronic, generalized weakness of upper and lower extremities, exacerbated by physical exertion (stair climbing, lifting, walking uphill). Inability to ride a bicycle due to impaired trunk and pelvic muscle control.

• Respiratory: Intermittent dyspnea, sometimes associated with chest pressure.

• Neurological: No evidence of myasthenia gravis on EMG. Sensitivity to pain during diagnostic procedures noted.

Final Diagnosis

In 2022, after consultation with Dr. Shaw (UK), the patient was diagnosed with Post-Polio Syndrome (PPS). This diagnosis explains the initial febrile illness in childhood, the subsequent chronic muscle weakness, and the progressive deterioration over decades.

Current Status and Challenges

While the PPS diagnosis has brought the patient clarity and validation after decades of uncertainty, the syndrome remains underrecognized and often downplayed within Germany, leading to limited access to specialized care and support.

Discussion

This case illustrates the profound consequences of delayed recognition of poliomyelitis and its late sequelae. The patient endured 71 years of misdiagnosis, stigmatization, and ineffective treatment recommendations (e.g., repeated advice to exercise more), which not only failed to improve her condition but may have accelerated muscle fatigue and decline.

The diagnostic journey included multiple false leads—Chiari malformation, ACTN3 polymorphism, myalgia, scapular cysts—and unnecessary investigations before the correct diagnosis was reached. The psychosocial burden, particularly the perception of laziness and inadequate parental and medical support, contributed to a lifelong struggle with self-image and occupational limitations.

This case highlights the need for improved awareness of Post-Polio Syndrome, especially in countries where it is often overlooked, to prevent unnecessary diagnostic delays and ensure patients receive appropriate support.

© 2000-2025 Sieglinde W. Alexander. All writings by Sieglinde W. Alexander have a fife year copy right. Library of Congress Card Number: LCN 00-192742 ISBN: 0-9703195-0-9