A-15-year-old boy has presented to the neurology clinic with difficulty walking | Medibuddy
29th February 2024

A-15-year-old boy has presented to the neurology clinic with difficulty walking

A-15-year-old boy has presented to the neurology clinic with difficulty walking. He was first seen by his paediatrician with frequent falls while walking two years ago and has got progressively worse.  He is currently struggling to climb stairs with worsening handwriting. On examination, there was loss of proprioception and vibration sensation. Titubation of his trunk was also noted. Absent knee and ankle reflexes were noted. Power was 4-/5 in all lower limb muscle groups. His mother informs you that her brother had a similar condition and was wheelchair-bound by age 25.

If this patient’s wife is a carrier for this condition, what are the chances his children will be affected?

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