What causes congenital fiber-type disproportion 3 (CFTD3)?

Updated: Mar 11, 2019
  • Author: Matthew Harmelink, MD; Chief Editor: Amy Kao, MD  more...
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Autosomal recessive mutations in the gene for selenoprotein N are a rare cause of CFTD accounting for fewer than 10% of cases. [58]  Mutations in the gene for selenoprotein N also cause multiminicore disease and congenital muscular dystrophy with rigid spine. The reason why different mutations cause different muscle pathologies is not clear, but clinical syndromes overlap with most patients having a rigid spine and respiratory insufficiency. [59]  Patients with CFTD 3 will present before age 1 year with low tone and poor head control. There is noticable weakness in the neck and axial muscles. As the children grow older, a wheelchair may be needed. Respiratory insufficiency usually results in the need for nocturnal ventilation in the patient's 20s.

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