Spinal muscular atrophy

Case contributed by Abraão Kupske
Diagnosis almost certain

Presentation

Examination performed to control tracheostomy in a patient with spinal muscular atrophy. We have no other medical history available.

Patient Data

Age: 11 years
Gender: Female
x-ray

Pulmonary hypoexpansion and morphostructural changes of the thoracic cavity, with sinus aspect. Thoracolumbar arthrodesis.

Case Discussion

Spinal muscular atrophy (SMA) is a group of autosomal recessive disorders in which there is degeneration of the anterior horn cells of the spinal cord and associated muscle weakness, include severe thoracic muscle weakness and difficulty breathing.

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