Spinal Muscular Atrophy With Severe Hyperlordosis: A Case Report

Area of Science:

• Neurology
• Genetics
• Pediatrics

Background:

• Spinal muscular atrophy (SMA) is an inherited autosomal recessive disorder affecting motor neurons, causing hypotonia and muscle weakness.
• The condition typically presents with progressive muscle atrophy, primarily in the lower limbs.
• Hyperlordosis, an excessive inward curvature of the lumbar spine, is a distinct spinal deformity.

Observation:

• An 11-year-old male presented with progressive difficulty in ambulation and rising from a seated position over six months.
• Physical examination revealed absent deep tendon reflexes, severe hyperlordosis, proximal limb weakness, and significant hypotonia.
• This presentation marked the first documented association of SMA with hyperlordosis.

Findings:

• The study successfully diagnosed a case of survivor motor neuron (SMN) gene-related SMA in a pediatric patient.
• Electrophysiology and neuropathology confirmed the diagnosis and the co-occurrence of severe hyperlordosis.
• The case underscores the complex clinical manifestations that can arise in SMA.

Implications:

• This report expands the understanding of SMA's phenotypic variability, particularly its association with spinal deformities like hyperlordosis.
• It emphasizes the importance of comprehensive physical examination in diagnosing rare genetic disorders.
• Current therapeutic limitations highlight the need for accessible and affordable treatments for SMA to enable a normal lifestyle.