This is a 20 year-old right hand dominant female who has complaints of difficulty with sports, catching her feet and poor coordination, worsening over 8 years. Over the past few years, she has noted muscle stiffness, difficulty relaxing her hands and daytime somnolence. No sensory complaints.

Review of systems is positive for swallowing difficulties and nausea, and inability to stand for prolonged periods of time.

PMH: Attention deficit hyperactivity disorder.

Medications: None

Allergies: None

Family History: Her mother has muscle stiffness.

Social History: No smoking, occasional alcohol use. Learning disabilities as a child, completed high school. She works in dishwashing for a culinary school.

Click for Patient Photo

Physical:
BP 100/70   Height 157 cm   Wt 49 kg
General: Thin. No acute distress.
Mental Status: Alert and oriented x 3. Slight nasal quality to speech.
HEENT: Mildly elongated, thin face.
CV: Cardiac rate and rhythm are regular, without murmurs or gallops.
CN: Pupils equal and reactive. Extraocular movements were intact without nystagmus. No ptosis. Visual field testing was full to confrontation. Optic disc edges were sharp bilaterally with venous pulsations present. Mildly decreased facial strength bilaterally. Facial sensation was intact. The palate elevated symmetrically with phonation. Sternocleidomastoids thin and 4/5 in strength. The tongue is midline, with normal bulk and strength.
Motor (Power/Tone/Bulk): No atrophy. Strength 3+ hands, 4+ wrists, 5 proximal arms; 3+ feet/ankles, , 4+ knee flexion, hip flexion, neck flexion. Decreased muscle relaxation after sustained grip, and after percussion of the thenar and extensor digitorum communis muscles. Mild right heel cord tightness.
Sensory: Sensation was intact to light touch, cold and vibration bilaterally in the upper and lower extremities. Romberg is negative.
Reflexes: 1+ left biceps, triceps, brachioradialis, trace right. 2+ bilateral patellae and Achilles. Toes were downgoing to plantar stimulation bilaterally.
Coordination: Finger-to-nose and rapid alternating movements were intact bilaterally.
Gait: Steady, without ataxia. Tandem walking was intact. She had decreased ability to walk on her heels.
Abnormal Movements: None.
Other Organs: Noncontributory.