Patient #20, a 16 year old male, presented with complaints of episodic fatigue, weakness, chest pain, and muscle stiffness. His symptoms began at age 11 when he noticed difficulty initiating running which improved after continuing to exercise. Subsequently, he noted progressive difficulty relaxing his hands, most notable after opening jars. For the last year his fatigue and weakness had progressively worsened, making climbing stairs difficult. Three months prior to presentation, he was hospitalized with severe fatigue and stabbing, shooting chest pains lasting 30-60 seconds. These chest pains occurred multiple times a day and were localized to the substernal area, occasionally radiating to the left arm. There was a mild associated shortness of breath but no associated palpitations, nausea, vomiting, or diaphoresis. He denied difficulty with swallowing, and the chest pains were not associated with symptoms of reflux. Since that hospitalization, his chest pains resolved and his weakness and fatigue, while still present, had improved.
He denied blurred vision, diplopia, dysphagia, dysarthria, vertigo, numbness, syncope or near syncope. He did report mild worsening of muscle weakness and stiffness with cold.
His mother reported that he met all his developmental milestones and walked around one year of age. At the time of presentation, he was in the tenth grade and doing well academically. For the past year he had operated his own yard business and was physically active. However, he had noted throughout his life he had not been able to keep up with his peers in terms of physical activity in gym class.
The family history was significant for similar symptoms in his mother and a maternal aunt. The patient's mother, 41 years of age, stated that at age 26 she developed episodes of severe chest pains and stiffness in her legs which was most noticeable at night. One year ago she had an episode of severe weakness and fatigue that lasted several months. She had currently improved, but still complained of intermittent muscle stiffness and cramps.
The patient's 21 year old brother and maternal grandmother were symptom free. History on the paternal grandfather was unobtainable.
He was not taking any medications and denied the use of alcohol, tobacco, or illicit drugs.
General: General examination was unremarkable. Cataracts were not present and there was no frontal baldness or wasting of facial, temporalis, or sternocleidomastoid muscles. There was a normal S1 and S2 with no extra heart sounds or murmurs. The testicular exam was normal.
Vital Signs: BP 128/68; HR 64.
Mental Status: The patient was awake, alert, and oriented. There was no dysarthria or aphasia.
Cranial Nerves:
Cranial Nerves | Findings |
|---|---|
| I | Not tested. |
| II | Visual acuity 20/20 bilaterally; Normal funduscopic exam; Pupils equal, round, and reactive to light with no afferent pupillary defect; Visual fields were intact. |
| III / IV / VI | Extraocular movements intact; No ptosis. |
| V | Intact facial sensation to pinprick and light touch. |
| VII | No facial weakness; No eyelid myotonia. |
| VIII | Intact. |
| IX / X | Gag intact bilaterally with symmetric elevation of palate. |
| XI | Sternocleidomastoid 5/5 bilaterally. |
| XII | Tongue midline without atrophy or fibrillations. |
Motor: Normal bulk without atrophy, hypertrophy or fasciculations. Tone was normal in upper and lower extremities. Muscle strength was 5/5 throughout including neck flexors and extensors. He was able to do ten deep knee bends without difficulty. There was percussion myotonia of the thumb and finger extensors. Grip myotonia was present and showed no change with repeated activity.
Reflexes: Symmetric and 2+ in biceps, triceps, brachioradialis, patellars, and ankles. Plantar responses were flexor.
Sensation: Intact to pinprick, light touch, vibration and proprioception.
Cerebellar: Normal finger-to-nose and heel to shin. No ataxia.
Gait: Gait was normal.
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