Rapidly Worsening Bulbar Symptoms in a Patient with Spinobulbar Muscular Atrophy
A 45 y/o man with a history of asthma and migraines presented to the neurology clinic in 2000 complaining of a 10-year history of progressive muscle cramps that initially affected his jaws and forearms but subsequently involved his neck and all of four limbs. He also reported a 10-year history of tremors in his upper extremities that also worsened in severity over time. Family history was positive for tremors in his maternal aunt and 2 of his 3 brothers, and cramps in his third brother. Examination at the time of presentation was remarkable for obvious gynecomastia, mild periorbital facial weakness, possible wasting of the sternocleidomastoid muscles, fasciculations in multiple muscles of the face and arms, and a 10 Hz postural tremor in the arms. Of note, mental status, reflexes, strength, sensation and gait were all normal. Curiously, electrodiagnostic testing showed evidence of a generalized sensory neuropathy with absent left sural, median, ulnar and dorsal ulnar cutaneous nerve sensory responses and a slightly reduced superficial radial nerve sensory amplitude and conduction velocity. Electromyo graphy showed evidence of acute denervation in the left lateral gastrocnemius and extensor digitorum brevis and evidence of chronic denervation in multiple muscles of the left upper and lower extremities. DNA testing for Kennedy’s disease confirmed the diagnosis revealing an expansion of 47 CAG repeats (normal being <33). The patient declined treatment for his tremor.\nThe patient continued to be seen in clinic on an annual basis, with slowly progressive disease with increasing difficulty climbing stairs and squatting. He was still able to continue working full time, however. At age 54 the patient reported new hoarseness and mild dysphagia which slowly worsened over the next year. He denied any heartburn or regurgitation. Videofluoroscopic evaluation of his swallowing revealed mild oropharyngeal dysphagia as well as evidence of esophageal reflux, but no laryngeal penetration or frank tracheal aspiration. Follow up swallowing evaluations were recommended every 3 to 6 months. The patient was subsequently seen at age 55 for an annual follow up visit, reporting increased difficulty climbing ladders and stairs. He additionally reported hoarseness after speaking for 5-10 minutes, persistent dysphagia and diffuse cramps.\nPast medical history included mild intermittent asthma; hay fever with rhinitis and conjunctivitis during the summer; tonsillectomy; and migraines. No history of smoking. Medications were sumatriptan and acetaminophen/hydrocodone as needed and fluticasone nasal spray as needed during allergy season.\nOn physical exam he had fasciculations in the hand and tongue and with exertion in the face and platysmus muscles. There was temporal wasting and moderate gynecomastia noted. Voice was coarse, slightly nasal and weak, with moderate bilateral facial weakness present and cranial nerves otherwise intact. Reflexes were absent in the biceps, rest were 2+. Strength was 4/5 in the tongue and hip flexors; 4±/5 in the deltoids, biceps, triceps; rest 5/5, and gait was relatively normal. Body mass index was 24.5 kg/m.\nThe patient returned for an urgent visit, 3 months later, during allergy season. He reported a recent URTI with development of nasal congestion, rhinorrhea, severe post nasal drip, frequent throat clearing, globus pharyngeus, cough, dyspnea and wheezing. He had also experienced several episodes of sudden severe difficulty breathing, with throat tightness and audible stridor, which were very frightening and prompted two visits to the emergency department, where he was sent home after some improvement with prednisone and bronchodilators.\nThe patient was seen 2 weeks later at pulmonary clinic. He was feeling better, dyspnea and wheezing had resolved, but still reported mild residual nasal congestion, globus and frequent throat clearing. He was given a prescription for daily nasal fluticasone spray and cetirizine, with albuterol inhaler as needed. Pulmonary function tests (PFT) were ordered.\nPFT values were within normal limits: forced expiratory volume in 1 second (FEV) 3.66 L (81%), forced vital capacity (FVC) 2.92 L (89%), FEV/FVC ratio 80. Flow volume loop was abnormal, consistent with fixed airway obstruction (). The patient developed laryngospasm with loud stridor and dyspnea during maximal expiratory pressure maneuvers. He was referred to Ears, Nose and Throat Clinic for airway inspection. Flexible fiberoptic nasolaryngoscopy showed no airway lesions or masses. Moderate erythema throughout the glottis and supraglottic larynx was noted, along with diminished abduction of the vocal cords. He was suspected of having laryngopharyngeal reflux and treated with esomeprazole, 40 mg daily, along with behavior modification. He was seen 10 weeks later. Globus pharyngeus and throat clearing were almost gone, and the prior baseline chronic dysphagia had resolved and hoarseness had improved. He was eating more with increased appetite and was very satisfied with the response to therapy.