Diagnostic Dilemma

Gradual muscle weakness

A 12 year old boy born of non consanguineous marriage presented with gradual weakness of all 4 limbs since 3 years. Weakness initially started in both legs with clumsiness of gait and frequent falls and inability to get up from sitting position. Now since the past 1 year, the child is not able to walk or stand and there is now weakness of upper limbs with inability to lift heavy objects. However, his fine motor movements are normal. The child has put on lot of weight since last 6 months. There is no convulsion or similar complaints in family. He is 4th of 4 children and all the 3 elder siblings are girls and are asymptomatic.

On examination, he was overweight (weight = 39 kg) and had pseudohypertrophy of calves with hypotonia. Power was 2/5 at the hip and at the shoulder joint and 3/5 at wrist ankles, and knees and elbows. He had absent reflexes with planters’ flexors.

What is the diagnosis?
Expert Opinion :
This child has proximal muscle weakness with pseudo-hypertrophy of calf muscles, onset at 9 years of age and normal sisters. Thus the diagnosis is Becker’s muscular dystrophy. Diagnosis of BMD is based on clinical grounds and laboratory investigations
Clinical features include:
• Proximal muscle weakness
• Positive Gower’s sign
• Pseudo-hypertrophy of calf muscles
• Delayed motor milestones
• Onset usually in later part of first decade of life
• Dilated cardiomyopathy (in 2nd- 3rd decade of life)

Laboratory features include:
• Elevated Serum creatine kinase (i.e., 5-100 times normal).
• Muscle biopsy with dystrophin antibody staining demonstrates the presence of dystrophin in variable percentages.
• Polymerase chain reaction (PCR), southern blots analysis, or fluorescent in situ hybridization demonstrates Dystrophin gene deletion in about 98% of cases.
• EMG: normal nerve conduction with possible borderline-to-low motor evoked responses
Answer Discussion :
Yasser Elbasheer
heredetory sensory motor disease
2 months ago
Anderson Barcellos
2 months ago

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