Patient #13 is a 65 year old white male who presented to the Department of Neurology for evaluation of progressive muscle twitching, cramping, and weakness.
His symptoms first began approximately 22 years ago when he noted muscular cramping and tightness in the legs, especially in the calf muscles. He was seen by a general practitioner who subsequently referred him to a neurologist. He was given a diagnosis of "muscular disease", otherwise not well specified, and the patient was advised to follow-up with his primary physician. The patient did not return for follow-up, but stated he continued to have progression of his symptoms.
Two years later, he noted "twitching" in his muscles, initially in his legs, and subsequently involving his shoulders and arms. The cramping and twitching was followed by muscle weakness beginning in the legs and progressing to involve the upper extremities. The weakness was greater on the left side. As his symptoms progressed, he began to have difficulty standing from a chair and would "trip" when walking. Subsequently, he developed problems lifting and holding objects, and stated that presently he was unable to lift more than 20 pounds. The degree of weakness varied during the day, did not seem to follow a specific temporal pattern, and appeared to worsen with cold weather.
Over the course of the years, he continued to have muscle cramping, but reported the cramping had improved recently. The twitching and cramping improved when taking potassium tablets, which he had been treating himself with for the past 5-6 years.
He stated he had occasional pain from a fall several years ago that "shattered" both calcanei bones in his feet. Surgical history included a left leg fracture with pinning approximately 23 years prior. He had no history of hypertension, diabetes, pulmonary, renal, coronary artery, or cardiovascular disease. The patient denied constipation, bowel or bladder incontinence, and numbness or tingling. He also denied swallowing or speech difficulties, blurred vision, double vision, or emotional incontinence. However, he stated that recently he had noted problems in remembering people's names.
He reported no known drug allergies. Family history was positive for hypertension and coronary artery disease in his father, negative for neurological disorders. He was married with four children, and gave a negative history of tobacco, alcohol, or drug abuse. His medications included ativan, doxepin, zantac, and potassium p.r.n.
General: Well-nourished, well-developed, white male in no acute distress.
Vital Signs: Temp-97.9, BP-134/90, P-72, RR-18.
HEENT: Normocephalic, atraumatic. No oropharyngeal lesions noted. Neck supple, no JVD, bruits, or lymphadenopathy. Thyroid gland was not appreciable to palpation.
Chest: Clear to auscultation and percussion bilaterally. Mild gynecomastia, right more than left.
Cardiovascular: Regular rate and rhythm, normal S1 and S2 without murmurs, rubs, or gallops.
Abdomen: Soft, non-tender, and non-distended with positive bowel sounds.
Extremities: No cyanosis, clubbing or edema. Mild atrophy in the scapular and hand muscles. Fasciculations were noted during the examination in the upper extremities.
Mental Status: The patient was awake, alert, and oriented to person, place, and time. Mini-mental exam was 29/30. Speech was fluent with normal repetition and comprehension. Normal labial with slight impairment of lingual and guttural components. A mild nasal component in his speech was noted.
Cranial Nerves:
Cranial Nerves | Findings |
|---|---|
| I | Not tested |
| II | Pupils were 3 mm and bilaterally reactive to light and accommodation. Visual acuity within normal limits with no evidence of visual field deficits. Optic discs clear with sharp margins. |
| III / IV / VI | Extraocular movements intact. No nystagmus. |
| V | Positive corneal reflex bilaterally. Normal facial sensation to light touch, pinprick, and temperature in the V1-3 distribution. Temporalis and masseter 5/5 bilaterally. |
| VII | Diminished labial strength, otherwise no focal deficits. Fasciculations were noted around the mouth. |
| VIII | Intact to finger rubs bilaterally. |
| IX / X | Symmetrically elevating palate with positive gag reflex. |
| XI | Sternocleidomastoid and trapezius muscles 5/5 bilaterally. |
| XII | Tongue moderately atrophic with no apparent fibrillations. |
Motor: Mild atrophy in the proximal and distal upper and lower extremities. Normal tone.
Strength | Right | Left |
|---|---|---|
Upper Extremities | ||
| Neck Flexion/Extension | 5- | 5 |
| Deltoid | 4- | 5 |
| Biceps | 4- | 5 |
| Triceps | 5- | 5 |
| Wrist Extensors | 4- | 5 |
| Wrist Flexors | 5- | 5 |
| Finger Extensors | 3+ | 5 |
| Finger Flexors | 4+ | 5 |
| Interossei | 4- | 5 |
Lower Extremities | ||
| Iliopsoas | 4- | 5 |
| Quadriceps | 5- | 5 |
| Hamstrings | 5- | 5 |
| Ankle Dorsiflexion | 4- | 5 |
| Plantar Flexion | 5- | 5 |
Reflexes: Absent in biceps, triceps, brachioradialis, patellar, and ankle. Negative Hoffman's sign, negative jaw jerk.
Sensation: Slightly diminished pinprick along the sole of the right foot. Diminished light touch bilaterally at the sole of both feet, which the patient felt occurred secondary to his fall and his calcaneal fracture. Proprioception was intact. Vibration was slightly diminished distally in the right lower extremity greater than the left lower extremity. Romberg was negative.
Cerebellar: No dysmetria on finger-to-nose and heel-to-shin bilaterally. Normal rapid alternating movements.
Gait: Intact with normal arm swing with normal toe and tandem walking. Mild difficulty in heel-walking.
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