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Could It Possibly Be … ?
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There is increasing recognition of adult presentations of metabolic diseases typically associated with children. These phenotypes are often milder and potentially mistaken for more common adult-onset disorders, therefore requiring a high index of suspicion. The most common adult-onset clinical features involve focal dystonias and parkinsonism. Making a diagnosis of dopa-responsive dystonia in an adult typically involves a therapeutic trial of low-dose levodopa. Genetic testing may be useful to confirm dopa-responsive dystonia and rule out other causes of dystonia and tremor. The neurological examination should be performed carefully to ensure that subtle dystonia is not missed. A trial of levodopa may be warranted to ensure that late-onset dopa-responsive dystonia is not missed.
Title: Could It Possibly Be … ?
Description:
There is increasing recognition of adult presentations of metabolic diseases typically associated with children.
These phenotypes are often milder and potentially mistaken for more common adult-onset disorders, therefore requiring a high index of suspicion.
The most common adult-onset clinical features involve focal dystonias and parkinsonism.
Making a diagnosis of dopa-responsive dystonia in an adult typically involves a therapeutic trial of low-dose levodopa.
Genetic testing may be useful to confirm dopa-responsive dystonia and rule out other causes of dystonia and tremor.
The neurological examination should be performed carefully to ensure that subtle dystonia is not missed.
A trial of levodopa may be warranted to ensure that late-onset dopa-responsive dystonia is not missed.
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