TTN-related hereditary myopathy with early respiratory failure presented with elevated hemoglobin initially: A case report and literature review.

ABSTRACT:

Background

As common abnormal conditions in clinical practice, hypoxemia and respiratory failure are mainly caused by various respiratory diseases. However, other causes are easily overlooked but deserve more attention from doctors.

Case presentation

A 44-year-old man presented with dyspnea for 10 years. In the early stage, his dyspnea was mild without hypoxemia, and he was misdiagnosed with polycythemia vera due to elevated hemoglobin level. He later developed to respiratory failure but he did not have weakness in his extremities. The positional difference in pulmonary function tests and arterial blood gas analysis led us to identify the respiratory muscle dysfunction. Fatty infiltration of the thigh muscle found by magnetic resonance imaging and muscle biopsies gave us mor

SUBMITTER: Liang H 

PROVIDER: S-EPMC11035038 | biostudies-literature | 2024 Apr

REPOSITORIES: biostudies-literature