First described by Dubowitz in 1965,1 rigid spine syndrome represents an axial congenital merosin positive muscular dystrophy with early, predominant rigidity of the spine as its main characteristic trait. The illness begins at an early age with a delay in motor development, and affects more boys than girls; however, in some cases onset occurs slightly later when weakness of proximal limb muscles appears in a previously otherwise asymptomatic child. In all cases a limitation of neck and trunk flexion develops and scoliosis appears either simultaneously or in the ensuing years; later on the disease may progress slowly or tend to stabilise. Other features that accompany the musculoskeletal signs are respiratory disturbances and cardiac changes.2 Recently, a first locus for this syndrome has been identified on chromosome 1p.3 In laboratory studies serum creatine kinase concentrations can be raised. Electromyographic studies of paracervical musculature, trapezium, deltoid, biceps, and quadriceps show a myopathic pattern with normal nerve conduction velocities. Biopsy findings disclose non-specific myopathic changes with descriptions of type I fibre predominance, type II fibre predominance and fibre type disproportion; electron microscopic studies have detected the presence of Z band streaming.

It is important to distinguish rigid spine syndrome from other diseases in which rigidity of the spine can appear, such as Duchenne and …