Spinal muscular atrophy with lower extremity predominance 2B

Spinal muscular atrophy with lower extremity predominance 2B
Other namesLower extremity-predominant spinal muscular atrophy type 2B, SMALED2B
Spinal muscular atrophy with lower extremity predominance 2B is inherited in an autosomal dominant manner.
SpecialtyNeurology
SymptomsGeneralised severe hypotonia at birth
Usual onsetInfancy
DurationLifetime
CausesMutations in BICD2 gene
Diagnostic methodMolecular test
PrognosisLife limiting

Spinal muscular atrophy with lower extremity predominance 2B (SMALED2B) is a rare neuromuscular disorder characterised by generalised muscle weakness.

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