The rigid spine syndrome due to acid maltase deficiency

Clinical Reasoning: A 38-year-old woman with childhood-onset weakness

“…5 Our patient lacked distal joint hyperlaxity, follicular hyperkeratosis, and abnormal skin scarring, which are characteristic of collagen type VI-related myopathies.…”

Whole‐body muscle magnetic resonance imaging in SEPN1‐related myopathy shows a homogeneous and recognizable pattern

“…To complicate things further, spinal rigidity has proven to not be pathognomonic for RSS, but rather is a relatively frequent finding in congenital myopathies and CMD. Mutations in the genes encoding proteins such as emerin, lamin A/C, collagen VI, acid maltase, ryanodine 1, and dynamin 2 have been shown to result in similar clinical phenotypes . In this setting, the genetic diagnosis of hereditary myopathies is often challenging.…”

Anaesthetic implications of rigid spine syndrome

“…Duchenne's muscular dystrophy, Becker's disease, and Friedreich's ataxia ( 18, 19). Even though many cases of RSS show familial occurrence, no pattern of inheritance has yet been found and it seems unlikely that RSS represents a single patient with genetic defect ( 20). So far, only a few cases of cardiomyopathy of the left ventricle have been reported in patients with RSS ( 7–10).…”