Question

Describe the approach to a young patient with extrapyramidal and cognitive dysfunction. [10]

Hint:

A detailed history and thorough neurological examination are key to distinguishing between different movement disorders and cognitive impairments in young patients.

Answer 1

The approach to a young patient with both extrapyramidal and cognitive dysfunction involves a comprehensive clinical evaluation, including a detailed history, physical examination, and appropriate diagnostic workup to identify the underlying cause.
Step 1: Clinical History:
1. Onset and Progression: Determine the age of onset, rate of progression, and specific symptoms such as tremors, rigidity, bradykinesia, or cognitive impairment.
2. Family History: Investigate a family history of neurodegenerative disorders, metabolic conditions, or movement disorders, as genetic causes may be involved.
3. Exposure History: Assess exposure to toxins, medications (such as antipsychotics), or infections that might lead to extrapyramidal symptoms or cognitive dysfunction.
Step 2: Physical Examination:
1. Neurological Examination: A thorough neurological exam should include assessment of motor function (muscle tone, coordination, reflexes) and cognitive function (memory, attention, language, executive function).
2. Movement Disorders: Evaluate for features of Parkinsonism, dystonia, chorea, or tremor, which may suggest a diagnosis of a movement disorder such as Wilson’s disease or Huntington’s disease.
3. Cognitive Testing: Perform basic cognitive testing such as the Mini-Mental State Examination (MMSE) or Montreal Cognitive Assessment (MoCA) to assess memory, attention, and other cognitive functions.
Step 3: Diagnostic Workup:
1. Laboratory Tests: Basic metabolic panels, liver function tests, and thyroid function tests should be done to rule out metabolic and endocrine causes.
2. Genetic Testing: If hereditary disorders like Huntington’s disease or Wilson’s disease are suspected, genetic testing should be considered.
3. Imaging Studies: Brain imaging (MRI or CT) may reveal structural abnormalities such as atrophy or lesions that could suggest neurodegenerative diseases.
4. Neurophysiological Studies: Electromyography (EMG) and nerve conduction studies may be useful in diagnosing conditions affecting the peripheral nervous system.
Step 4: Management:
1. Symptomatic Treatment: Management depends on the underlying diagnosis. For extrapyramidal symptoms, medications like levodopa, dopamine agonists, or anticholinergics may be used. Cognitive dysfunction can be managed with cognitive therapy or medications targeting the specific etiology.
2. Multidisciplinary Approach: A team of neurologists, physiotherapists, and psychologists may be needed for optimal management, especially for neurodegenerative diseases.
3. Genetic Counseling: For genetic conditions, provide genetic counseling and consider screening family members.