Delayed diagnosis and genetic testing in spinal muscular atrophy: a case series.
Xihua Guo, Yuqi Luo, Mingchun Li et al.
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Case in brief
This case series presents five patients with spinal muscular atrophy (SMA) who experienced significant delays in diagnosis. Patient 1, a 21-year-old man, had limb weakness for 20 years before being diagnosed with SMA type II at age 6. Patient 2, aged 26, was diagnosed with SMA type III after 11 years of progressive weakness. Patient 3, initially misdiagnosed with Duchenne muscular dystrophy, was confirmed to have SMA at age 40. The two sisters were recently diagnosed with SMA after presenting with lower limb weakness.
Diagnostic / clinical pearl
Clinicians should be aware of the potential for misdiagnosis in patients with progressive limb weakness, particularly in cases where genetic testing for spinal muscular atrophy is not readily accessible.
Why it matters
Delayed diagnosis of SMA can lead to prolonged suffering and missed opportunities for early intervention, highlighting the need for increased awareness and accessibility of genetic testing.