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In 2000, a 26-year-old woman presented to the Auckland Hospital Neurology Department for assessment of chronic weakness. Medical history included stridor at age 1 month requiring intubation and ventilation and feeding problems requiring gastrostomy feeding between the ages of 1 and 8 months. Following this, early motor milestones were normal with sitting at 6 months and walking at 12 months. At age 5 years her parents noted an exaggerated lumbar lordosis and inability to run as fast as her peers. By age 11, she had difficulty climbing steps or riding a bike uphill. There was no family history of neuromuscular disease or consanguinity. She had three healthy siblings and one sister who died within 24 hours of birth due to perinatal asphyxia (no further details available).
Examination at age 11 years had shown slight right ptosis and marked weakness of shoulder girdle, elbow, hip girdle and knee movements. Her gait was described as waddling. Reflexes and sensation were intact.
Now aged 26 years, she reported stable weakness with difficulty lifting heavy items, washing hair, climbing stairs and walking long distances. Examination showed moderate weakness of upper and lower facial muscles and mild-to-moderate weakness of cervical muscles. Her muscles were generally thin. There was severe shoulder and hip girdle muscle weakness and moderate weakness about the knees and elbows. Arm reflexes were absent.
What is the differential diagnosis?
Proximal muscle weakness is characteristic of myopathy or spinal muscular atrophy. Myopathies that could present in childhood include primary muscle disorders such as congenital myopathies, collagen type VI-related congenital muscular dystrophies or muscular dystrophies such as limb girdle muscular dystrophies (LGMD). Facioscapulohumeral muscular dystrophy (FSHD) and myotonic dystrophy need to be considered because of facial involvement (though the absence of clinical myotonia and lack of distal weakness makes myotonic dystrophy unlikely), and ptosis should always lead the clinician to consider …
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