Question

A mother brings her 2 year-old son for a routine evaluation. The mother states, “he is so clumsy, he trips and falls all the time. I think he might need glasses.” On examination, you notice the patient walking on his toes and has enlarged calves. The patient trips walking toward you and when trying to get back up, he starts walking up his legs.

3. Based off of the history, what is the most likely diagnosis for this patient? Support your answer using the pathophysiology of the disease.

4. How would you confirm this diagnosis?

5. What anticipatory guidance would you provide the patient’s mother?

Answer 1

CHIEF COMPLAINT- A mother brings her 2 year-old son for a routine evaluation. The mother states, “he is so clumsy, he trips and falls all the time. I think he might need glasses.”

PHYSICAL EXAMINATION-

• patient walking on his toes
• Patient has enlarged calves

DIAGNOSIS- Duchenne muscular dystrophy (DMD)

PATHOPHYSIOLOGY-

• DMD is the most common & severe form of muscular dystrophy, with disease onset typically occurring at two to three years of age.
• Progressive muscle paresis and atrophy.
• Starts in the proximal lower limbs (pelvic girdle).
• Extends to the upper body and distal limbs as the disease progresses.
• it's much more common in boys.

INVESTIGATION-

• Blood tests- Increase creatine kinase(CK) in serum of almost all affected individuals.
• Genetic analysis (confirmatory test)- detect dystrophin gene mutation
• Muscle biopsy- Analysis of the tissue sample to distinguish muscular dystrophies from other muscle diseases.

GUIDANCE-

• Exercise and stretches can keep your child's muscles and joints limber and help them feel better. Walking and swimming, can help maintain strength, mobility.
• Physiotherapy to reinforce preserved muscles (including respiratory muscles training) and to prevent contractures
• Canes, walkers and wheelchairs can help maintain mobility and independence.