Question

A mother brings in her four year old son to the clinic for evaluation of his poor motor skills. She reports that he is slow to walk and that now the progress he has made seems to be diminishing. She is concerned because one of her uncles had a similar disease and died at 25 of respiratory failure. Based on the clinical findings what disease do you expect? How do you differentiate thi muscular disease from other common muscular diseases? What laboratory tests can you order to confirm your diagnose and what results do you expect? What is the genetic component of this disease and what gender is the disease more prominent in and why? What is the prognosis for this patient? Any possible successful treatments?

Answer 1

Disease expect:

1. Hereditary Muscular dystrophy.

Rational:

The child is presents with the symptoms of hereditary muscle weakness usually attacks young generations.

2.its a neuromuscular disorder in which patient will have progressive muscle weakness and muscle wasting.

Other condition like GBS cause ascending paralysis.

Multiple sclerosis cause descending muscle weakness.

3. Lab test:

Genetic testing

EMG

Muscle biopsy

CT scan

4. It is progressive muscle weakness disorder.

Prognosis is good with regular physical exercises.