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Case Records of the Massachusetts General Hospital
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Volume 355:831-839 August 24, 2006 Number 8
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Case 26-2006 — A 19-Year-Old Woman with Difficulty Walking
Nagagopal Venna, M.D., Katherine B. Sims, M.D., and P. Ellen Grant, M.D.

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Presentation of Case

Dr. Roy N. Alcalay (Neurology): A 19-year-old right-handed woman was referred to the neurology clinic because of slowly worsening difficulty walking and painful spasms in her legs and arms. When the patient was eight years of age, her teacher noticed that her left shoe was disproportionately worn on its outer side. Her physician noted inversion of the left foot and made a diagnosis of poliomyelitis. Tendon-transplantation surgery was performed on the left ankle in an attempt to correct the inversion. After the operation, the patient had mild clumsiness of the left leg and ankle, and another operation was performed the . . . [Full Text of this Article]

Differential Diagnosis

The Movements

Causes of Dystonia

Secondary Dystonias

            Wilson's Disease

            Mitochondrial Disorders

Primary Dystonias

            Dopa-Responsive Dystonia

Dr. Nagagopal Venna's Diagnosis

Discussion of Diagnostic Testing

Biochemical Pathways

Molecular Genetics

Genetic Counseling

Anatomical Diagnosis


Source Information

From the Neurology Service (N.V.), the Pediatric Neurology Service (K.B.S.), and the Department of Pediatric Radiology (P.E.G.), Massachusetts General Hospital; and the Departments of Neurology (N.V., K.B.S.) and Radiology (P.E.G.), Harvard Medical School.



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