Present Illness: This is the case of a 55-year-old left-handed man referred to the Department of Neurology in early 1999 for evaluation of progressive weakness. He has a history of severe kyphoscoliosis and underwent spine stabilization surgery with placement of Harrington rods in November 1995. He also has a history of progressive respiratory difficulty manifesting as dyspnea and exercise intolerance beginning as early as 1990. He was originally diagnosed with asthma and treated with inhalers, including inhaled steroids. Pulmonary function tests at that time were consistent with restrictive lung disease. His pulmonologist suggested that the spine surgery might improve his restrictive lung disease, but the patient reported no improvement in his dyspnea following surgery, and in fact his respiratory status continued to worsen. For several years, he has required oxygen supplementation by nasal cannula, at present requiring constant oxygen at 5 liters per minute, and uses a BIPAP machine while sleeping.
He now complains of progressively worsening generalized weakness and fatigue since at least early 1997. He did not experience weakness in individual limb or axial muscles until October 1998. Prior examinations by neurologists documented normal (5/5) strength until that time. On Oct. 20, 1998, he was documented to have normal strength except for 4+ to 5- strength in the tibialis anterior bilaterally. He ambulates with the help of a cane or walker, with fatigue after 1-2 blocks. He can stand comfortably for at most 5-10 minutes at a time without fatigue. He states that he has always had thin calves, but he denies any noticeable atrophy, fasciculations, muscle pains or cramping. He denies any complaints related to sensation, coordination, memory, vision, speech or swallowing, or bowel or bladder control.
Another neurologist had evaluated him in 1995 for the possibility of CMT disease. He had normal nerve conduction studies and a negative DNA test, by his report. Those records were not available to us for further inspection.
Past Medical History: Asthma, allergic rhinitis, kyphoscoliosis, and hypertension. No history of HIV risk factors.
Past Surgical History: Spine stabilization with placement of Harrington rods, November 1995.
Medications: Provera 10 mg TID, Norvasc 10 mg QAM, Ibuprofren 800 mg TID, Zestril 10 mg QD, Prevacid 15 mg QD, Flovent 2 puffs BID, Theo-Dur 400 mg BID, Serevent 2 puffs BID, Proventil 2 puffs PRN, Claritin 10 mg QD, Vancenase-AQ BID.
Family History: A sister with scoliosis and foot drop is being followed in a MDA-sponsored clinic in another state. He is unsure as to her diagnosis. He does not know of any other family members with weakness, scoliosis or respiratory problems. He has one brother who died in a car accident at age 45, but was previously healthy.
Social History: He works for a major airline, performing desk work. Denies tobacco use. Drinks alcohol socially.
General: Sitting comfortably in a wheelchair with nasal oxygen cannula.
Vital Signs: B.P. 120/70; pulse 102; weight 190 lbs.; respiration 18.
HEENT: Normocephalic, atraumatic. Oropharynx clear. He did not have a high arched palate, temporal atrophy, or facial dysmorphism.
Neck: Supple without lymphadenopathy.
Chest: Tachypneic with accessory muscle use and reduced diaphragmatic excursion. Clear breath sounds to auscultation bilaterally.
Cardiovascular: Slight tachycardia. No murmur or gallop detected.
Abdomen: Normal bowel sounds. No hepatosplenomegaly.
Extremities: Intact peripheral pulses. No edema. Normal joint range of motion.
Skin: No lesions or rashes.
Mental Status: Alert and oriented to person, place and time. MMSE score 30/30. Speech was fluent with normal comprehension and repetition.
Cranial Nerves:
Cranial Nerves | Findings |
|---|---|
| I | Not tested. |
| II | Pupils equal and reactive to light and accommodation. Visual fields full. Fundoscopic exam normal. |
| III / IV / VI | Extraocular movements intact. |
| V | Intact light touch sensation bilaterally. |
| VII | Normal facial strength bilaterally. |
| VIII | Hearing intact to bilaterally. |
| IX / X | Symmetric palatal elevation. |
| XI | 5/5 strength in sternocleidomastoids and trapezius. |
| XII | Tongue midline without atrophy or fibrillations. |
Motor: Bulk is reduced and tone is decreased throughout. No fasciculations were noted. Strength - neck flexors 4/5; neck extensors 5/5; deltoids 4-/5; biceps 4+/5; triceps 4+/5; wrist extensors, wrist flexors, finger extensors and finger flexors all 5-/5; hip flexors and hip abductors 4/5; hip adductors 4-/5; knee flexors 4+/5; knee extensors, plantar flexors 5-/5; dorsiflexors 4+/5. No fatigability could be demonstrated with repetitive deltoid contraction. No myotonia noted with contraction or percussion.
Reflexes: 1+ in right upper extremity, 2+ in left upper extremity, 2+ bilaterally at the knee, 1+ bilaterally at the ankle. Plantar responses are flexor bilaterally.
Sensation: Intact to light touch, pinprick, vibration and proprioception assessment throughout. No sensory level identified.
Cerebellar: Intact finger to nose, heel to shin and rapid alternating movements. No truncal ataxia.
Gait: Slow, cautious, and slightly wide based. He was able to arise from a chair without the support of his hands.
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