Spinal muscular atrophy with lower extremity predominance 2A

Spinal muscular atrophy with lower extremity predominance 2A
Other names	Lower extremity-predominant spinal muscular atrophy type 2A, SMALED2A
Spinal muscular atrophy with lower extremity predominance 2A is inherited in an autosomal dominant manner.
Specialty	Neurology
Symptoms	Muscle weakness in legs
Usual onset	Infancy
Duration	Lifetime
Causes	Mutations in BICD2 gene
Diagnostic method	Molecular test

Spinal muscular atrophy with lower extremity predominance 2A (SMALED2A) is a rare neuromuscular disorder characterised by muscle weakness predominantly in legs. The disorder is usually diagnosed shortly after birth; affected children have a delayed motor development, waddling gait, difficulties walking, sometimes develop spasticity.^[1][2] Sensation, swallowing and cognitive development are not affected. The disorder is slowly progressive throughout the lifetime.^[1]

The disease is caused by a mutation in the BICD2 gene and is passed on in an autosomal dominant manner.^[1]

There is no known cure for SMALED2A.^{[citation needed]}

See also

• Spinal muscular atrophies
• Spinal muscular atrophy with lower extremity predominance 1
• Spinal muscular atrophy with lower extremity predominance 2B

References

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