(OPD syndrome)

Very rare. Sporadic or autosomal dominant transmission of a mutation of the LRP12 gene (8q22.3) (OPDM1)[MIM 164 310] or the GIPC gene (19p13) (OPDM2) [MIM 618 940]. There are a few cases of autosomal recessive transmission.

Neuromuscular disease characterized by progressive paralysis of the external oculomotor, facial and pharyngeal muscles that appears in adulthood.

Clinical presentation:        progressive ptosis, oculomotor paralysis, weakness and atrophy of the facial muscles, dysphagia, dysarthria, weakness and distal amyotrophy of the limbs (gastrocnemial and soleus muscles). Respiratory damage is common. More rarely: hypoacusis of sensorineural origin or proximal amyotrophy.  Moderately elevated CPK levels.

Muscle biopsy:        myopathic image with lined vacuoles. The onset is earlier and the evolution more severe in the recessive forms.

Pathology close to the oculopharyngeal muscular dystrophy (see this term), linked to a mutation of the LRP12 (8q22.3) [MIM 164 300] or of the PABPN1 gene (14q11.2) [MIM 164 300].

Anesthetic implications: 

risk of aspiration, difficult monitoring of muscle relaxation. Avoid succinylcholine

References : 

-        Van der Sluys BM, ter Laak HJ, Scheffer H, van der Maarel SM, van Engelen BGM.
Autosomal recessive oculopharyngodistal myopathy : a distinct phenotypical, histological, and genetic study.
J Neurol Neurosurg Psychiatry 2004 ; 75 :1499-501.

Updated: July 2021