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Home > West Medicine > Pediatrics > Pediatric Internal Med
百科

Spinal muscular atrophy in children

儿科综合

Common symptoms

四肢无力、蹒跚步态、震颤、舌肌萎缩、呼吸困难、肌张力减低、对称性肌无力、面肌无力、肌肉萎缩

The pathology of disease

Spinal muscular atrophy in children is motor neuron disease due to SMN1 deletion; hypotonia; progressive weakness; infants/children; nusinersen/onasmersen; supportive; pediatric neurology/genetics.

Symptoms

Hypotonia; progressive weakness; infant/child; areflexia; tongue fasciculations; SMN1; SMA

Causes

SMN1 deletion; AR; motor neuron; spinal muscular atrophy.

Treatment

Nusinersen; onasmersen/risdiplam; supportive; respiratory/nutrition; pediatric neurology/genetics

Dept

Pediatric neurology / pediatrics / genetics / rehab.

Warm reminder: Health education reference only; seek care at regular hospital.