Objective To summarize the clinical features of motor neuron disease ( MND) with main presentation of pulmonary hypertension, so as to improve the diagnosis.Methods A patientwithMND whose main presentation was pulmonary hypertension was analyzed retrospectively. Meanwhile related literatures were reviewed. Clinical data including symptoms, early signs, misdiagnosis causes, and necessary functional examination of respiratory muscle were collected. Results The symptoms of MND was slow-onset and insidious with gradual progression over time. History inquiring found that the symptoms of muscle wasting and physical debilitation emerged long time before the respiratory symptoms. Physical examination also revealed obvious sign of muscle atrophy. Conclusions MND with main presentation of pulmonary hypertension has been recognized insufficiently and often misdiagnosed as other pulmonary diseases. Detailed history taking, systematic physical examination, and convenient functional examination of respiratory muscle,can not only reduce misdiagnosis, but also avoid some expensive and traumatic process.