A 69-year-old man comes to the office due to trouble singing. In his youth, the patient was in a barbershop quartet, and the group is trying to get together again, but he is having difficulty because his voice is too quiet. The patient runs out of breath when singing and has trouble hitting the notes. His friends say he is not as funny as he used to be. His wife also says that he takes longer to eat meals and often coughs after drinking. The patient adds, "Food doesn't taste as good as it used to." He has no other medical conditions and takes no medications. On examination, there is breathiness of the voice, but otherwise, cranial nerves II-XII are grossly intact. There is increased resistance to joint movement of the right, more than the left, arm. Deep tendon reflexes are 2+ in all extremities. Posture is stooped, and gait is slow. Which of the following is the most likely diagnosis in this patient?
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This patient's symptoms and neurologic findings raise suspicion for probable idiopathic Parkinson disease. Although idiopathic Parkinson disease most often presents with tremor, it can also manifest with primarily bulbar symptoms, such as in this patient. Specifically, this patient has the following:
Diagnostic features such as rigidity, postural instability, and gait changes are often discovered on physical examination instead of through a patient's report. "Not being funny" can sometimes indicate a combination of bradykinesia of the face (masked facies) and/or the voice (hypophonia).
In patients in whom Parkinson disease is being considered, bulbar symptoms may be considered "red flags" because they can be seen with other related conditions; however, the presence of red flags does not exclude the diagnosis of Parkinson disease so long as other supportive features (eg, olfactory dysfunction) are present.
(Choice A) Like Parkinson disease, amyotrophic lateral sclerosis can present with predominantly bulbar symptoms such as dysphagia and dysarthria. However, examination would reveal upper and lower motor neuron signs (eg, atrophy, fasciculations, hyperreflexia). Rigidity, loss of olfactory function, and a stooped posture are more consistent with Parkinson disease.
(Choice B) Dementia with Lewy bodies can present with parkinsonian features (eg, rigidity). However, dementia, which is not seen in this patient, must also be present. In addition, patients often have hallucinations and fluctuating cognition.
(Choice D) Brainstem strokes classically lead to the crossed signs of contralateral weakness with ipsilateral cranial nerve deficits. In the pons, this often manifests as facial weakness because the facial nerve (CN VII) originates in the pons.
(Choice E) Stiff person syndrome, an autoimmune condition, can present with rigidity, but it primarily involves the axial muscles, and patients usually have severe gait disturbances due to stiffness. In addition, the most classic feature is severe, painful muscle spasms that are precipitated by loud noises and usually result in falling. It is much more common in women; patients also typically have comorbid type 1 diabetes mellitus.
Educational objective:
Parkinson disease can present with bulbar symptoms, including aspiration and hypophonia (soft voice). Olfactory dysfunction is also common. Examination often shows rigidity, stooped posture, and typical gait changes (eg, slowness, shuffling).