[MIM 617 072]

Described in only one single family. Autosomal recessive transmission of the TOR1AIPI gene (1q25.2) coding for torsin 1 interacting protein 1.

Clinical presentation: rigid spine and contractures of the distal joints. Sometimes: respiratory or cardiac involvement.

Anesthetic implications: 

as in any muscular dystrophy, it is recommended to avoid halogenated agents and succinylcholine, and to carry out a TIVA based on propofol, but cases where sevoflurane has been used without problems have been described. Preoperative echocardiography and ECG. Difficult intubation in case of contracture of the muscles on the neck.

References :

-          Benarroch L, Bonne G, Rivier F, Hamroun D.
The 2020 version of the gene table of neuromuscular disorders.
Neuromusc Dis 2019 ; 29 : 980-1018 ou  http://www.musclegenetable.fr.

Updated: June 2021