Torticollis

Description

Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).

Clinical Features

Thompson et al. (1986) reported 5 girls with congenital muscular torticollis from 3 sibships of an inbred kindred.

Engin et al. (1997) described a Turkish family in which 5 patients over 3 generations had congenital muscular torticollis. The probands were a 13-year-old boy and his 12-year-old sister who had suffered from tilted head since birth. In each, the head was tilted to the right and the neck twisted toward the left shoulder. The right sternocleidomastoid muscle resembled a fibrotic band. The cervical spine was normal radiographically. Facial asymmetry was not severe in the boy but moderately severe in the girl. The parents were 'fourth degree' relatives and unaffected. On the father's side, the grandmother, an uncle, and a son of another uncle had suffered from 'twisted neck' in the right direction since birth. If the inheritance were autosomal dominant, then 2 males would represent skipped generations.

Familial spasmodic torticollis may not be distinct from dystonia musculorum (128100, 224500), because the latter sometimes presents first or even only as torticollis, especially in the dominant variety. Gilbert (1977) described 4 patients from 3 families with spasmodic torticollis and maintained that it is a distinct from dystonia musculorum deformans because none of those affected had evidence of more widespread disease.

Inheritance

Male-to-male transmission (Isigkeit, 1931; Garceau, 1962) and transmission of torticollis through 3 or more generations (Armstrong et al., 1965) have been reported.