A late-onset muscular dystrophy characterized by ptosis (drooping eyelids) and dysphagia (difficulty swallowing). Caused by GCG repeat expansion in PABPN1 gene. Onset typically 40-60 years. More common in certain populations (French-Canadian, Bukhara Jews).

• 1Genetic testing
• 2Clinical evaluation
• 3Family history assessment
• 4Specialized laboratory tests
• 5Imaging studies
• 6Biopsy (if applicable)

Slowly progressive condition with normal life expectancy. Ptosis and dysphagia are main manifestations. Dysphagia may require dietary modifications or cricopharyngeal myotomy. Ptosis surgery is often needed but may need repeat procedures. Proximal limb weakness develops later in disease course. Most patients remain ambulatory throughout life. Onset typically in 40s-50s; earlier onset correlates with more severe course. Genetic counseling for autosomal dominant inheritance.

• Genetic counseling
• Carrier screening
• Prenatal diagnosis
• Preimplantation genetic diagnosis
• Family planning