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Table 3 Sign and symptom concept frequency: Adult reports (N = 15)

From: Development and content validity of the Barth Syndrome Symptom Assessment (BTHS-SA) for adolescents and adults

Physical signs and symptoms

Fatigue/tiredness (n = 15)*

Muscle weakness (n = 12)

Shortness of breath (n = 5)

Mouth sores (n = 5)

Low muscle tone (n = 4)

Immune system signs and symptoms

Neutropenia (n = 12)

Infection (n = 9)

Cardiovascular signs and symptoms

Arrhythmia (n = 8)

Pain signs and symptoms

Muscle pain (n = 6)

  1. This table reflects symptoms reported by < 25% of participants (i.e., n ≥ 4)
  2. *Total number of participants who reported sign or symptom
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172