A 44-year-old man presented with a 1-year history of progressive muscle weakness and cramping. Neurophysiology study, along with clinical presentation, was diagnostic. The differential diagnosis, diagnostic testing, treatment, and prognosis of this rare disease are discussed.
Multiple system atrophy (MSA) is an adult-onset, progressive, neurodegenerative condition that has several different initial presentations. Ultimately affected patients develop parkinsonian features, autonomic dysfunction, cerebellar ataxia, and corticospinal deficits. Patients with MSA are often misdiagnosed as having Parkinson disease. This article discusses the epidemiology and pathophysiology of MSA, in addition to addressing clinical and diagnostic signs and symptoms, and the limited treatment options available to physicians.
Essential tremor (ET) is one of the most common movement disorders. Although often considered a monosymptomatic disorder (postural and kinetic tremor), ET has more recently been considered a more heterogeneous syndrome, with motor and nonmotor features. The diagnosis is clinical and pharmacologic and surgical therapies exist. ET is frequently misdiagnosed as Parkinson disease or dystonia. The traditional notion of ET as a benign disorder has been challenged by those who view ET as a slowly progressive neurodegenerative disorder.
A 73-year-old man presented with acute visual loss in his left eye associated with transient left upper extremity numbness. Diagnosis was made in the emergency room, where treatment strategies were discussed.
Idiopathic intracranial hypertension (IIH) is a condition of unknown etiology often encountered in neurologic practice. It produces nonlocalizing symptoms and signs of raised intracranial pressure and, when left untreated, can result in severe irreversible visual loss. It most commonly occurs in obese women of childbearing age, but it can also occur in children, men, nonobese adults, and older adults. Although it is frequently associated with obesity, it can be associated with other conditions, such as obstructive sleep apnea and transverse cerebral venous sinus stenoses. Recent identification of subgroups at high risk for irreversible visual loss, including black patients, men, and patients with fulminant forms of IIH, help guide the optimal management and follow-up. Ongoing studies of venous anatomy and physiology in IIH patients, as well as a recently begun randomized clinical treatment trial, should provide further insight into this common yet poorly understood syndrome.
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