What tests are recommended for a 42-year-old female (YOF) with a family history of progressive dysphagia, specifically a mother diagnosed at age 63?

Genetic Testing and Neurological Evaluation Are Essential for This Patient

Given the strong family history of late-onset progressive dysphagia, this 42-year-old woman requires genetic testing for oculopharyngeal muscular dystrophy (OPMD) and comprehensive neurological evaluation beyond cognitive screening alone.

Why This Family History Matters

The clinical presentation—progressive dysphagia starting at age 59 with diagnosis at 63—is highly characteristic of OPMD, an autosomal dominant condition with typical onset in the 5th-6th decade of life. 1 The patient is currently asymptomatic but at 50% genetic risk if her mother has OPMD.

Recommended Testing Beyond Cognitive Screening

Genetic Testing

• PABPN1 gene testing should be performed now, as OPMD is caused by a GCN trinucleotide repeat expansion in this gene 1
• Genetic counseling should accompany testing given the autosomal dominant inheritance pattern 1
• Early genetic diagnosis allows for anticipatory guidance and monitoring before symptom onset 1

Baseline Neurological Assessment

• Comprehensive cranial nerve examination focusing on all cranial nerves, not just cognitive function, as multiple cranial nerve deficits would suggest alternative diagnoses like brainstem pathology or systemic disease 2
• Detailed oropharyngeal examination including assessment of ptosis (often the first sign in OPMD), extraocular movements, facial strength, tongue strength and mobility, palatal movement, and pharyngeal function 2, 1
• Baseline swallowing evaluation even if asymptomatic, as 55% of patients with aspiration have silent aspiration without protective cough 2

Baseline Instrumental Swallowing Assessment

• Modified barium swallow (videofluoroscopy) or FEES should be considered for baseline documentation, as these are gold standard assessments that can detect subclinical dysphagia 3
• FEES may be preferable as it involves no radiation and can be repeated for monitoring 3
• This establishes a baseline for future comparison when symptoms develop 3

Monitoring Protocol If Genetic Testing Confirms OPMD

• Regular dysphagia screening every 3-6 months once the patient reaches her 50s, as symptoms typically begin in the 5th-6th decade 3
• Weight monitoring and nutritional assessment at each visit, as weight loss is detrimental and early intervention improves outcomes 3
• Repeat instrumental swallowing studies when any symptoms develop, as clinical examination alone is insufficient to detect aspiration risk 3, 2

Critical Pitfalls to Avoid

• Do not rely on cognitive screening alone in a patient with this family history—the dysphagia pattern suggests a neuromuscular disorder requiring specific genetic and swallowing assessments 2, 1
• Do not wait for symptoms to develop before establishing baseline function, as early detection of subclinical dysphagia allows for preventive interventions 3
• Do not assume dysphagia location predicts pathology—distal esophageal or gastric lesions can cause referred pharyngeal symptoms, so comprehensive evaluation is needed 3, 4

Alternative Diagnoses to Consider

If genetic testing is negative for OPMD, the differential diagnosis for familial progressive dysphagia includes:

• Other hereditary myopathies 1
• Familial amyotrophic lateral sclerosis (though typically earlier onset) 3
• Hereditary inclusion body myopathy 1

The key is establishing the genetic diagnosis now while the patient is asymptomatic, allowing for proper surveillance and early intervention when symptoms eventually develop.