Present Illness: Patient #2 is a 39 year old right-handed male presenting with a chief complaint of diffuse "jumping" of his muscles and occasional cramping which he has noted for one and one-half years. These complaints have worsened in the last six months. He also complains of difficulty in relaxing the muscles of the hands when gripping things and has to shake them in order to enable them to relax. For the past year he reports a change in his speech which he described as "stumbling on words" and mild difficulty in swallowing, which he attributes to "sinus drainage". He has lost approximately 18 pounds in the last year which he said was due to his being on a diet and exercise.
Past Medical History: His past history includes hypertension, for which he takes a beta blocker, maxzide, and diuretics. He has experienced blackouts at three month intervals since age 14. These last a few seconds and occur when changing positions. This symptom has been extensively evaluated numerous times and no cause has been identified.
Past Surgical History: None.
Allergies: No known allergies.
Social History: He operates a family owned paint business and gives a negative history for smoking, drug, and only occasional alcohol use.
Family History: Grandfather with Alzheimer's disease, father who has had cramps in his legs since an early age, and mother with emphysema.
The physical examination was normal with a blood pressure of 120/70 supine and 100/60 standing. The heart had a regular rate and rhythm with no murmurs. His speech had a hoarse voice quality and slightly slurred possibly due to his accent.
Mental Status: Awake, alert, and oriented with a mini-mental score of 30/30. There was no evidence of language disturbance or aphasia.
Cranial Nerves: Patient had mild dysphonia, but no dysarthria.
Motor: Normal bulk and tone throughout. Upper and lower extremities had diffuse widespread rippling movements of the muscles, present randomly in the proximal and distal muscles and affecting large areas of muscle. On testing for action myotonia, there was evidence of very slight difficulty in relaxing the right hand greater than the left hand. He had no percussion myotonia of the thenar eminence. Slight weakness (4+/5) was present bilaterally in the deltoids, finger extensors and flexors, iliopsoas, and ankle and toe extensors and flexors. The remaining musculature was 5/5 (normal).
Reflexes: 1+ in the upper and lower extremities, plantars downgoing.
Sensation: All normal including a negative Romberg.
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