Presence of emerinopathy in cases of rigid spine syndrome

Scoliosis Correction in an Adolescent with a Rigid Spine Syndrome

“…There were no increased muscular enzymes in our case, a characteristic that has been noted by other investigators with a prevalence of up to 80%. 11,13 Our patient did not have any delay in motor milestones, as previously reported in some cases with a prevalence as high as 50%. 7,12,15 Botox was described as a successful option for improving the cervical spine range of motion in a 14-yearold patient with RSS.…”

“…1 It is imperative to exclude other causes of rigidity in spine, especially EDMD, and other dystrophies and myopathies that may be sometimes associated with life-threatening cardiomyopathy. 13 Although the X-linked forms of dystrophy can be excluded in all female patients with RSS, it is often difficult to diagnose EDMD in patients younger than 20 years because the cardiac abnormalities may not have been fully established by the second decade. Because of this possible clinical overlap of RSS and EDMD, molecular and genetic diagnosis is often necessary to exclude EDMD.…”

“…Because of this possible clinical overlap of RSS and EDMD, molecular and genetic diagnosis is often necessary to exclude EDMD. 13 The clinical course of RSS is generally characterized by hypotonia and neck weakness during the first few years of life, contractures of muscle groups, including the gastrocnemius and spinal extensors, followed by gradual improvement and stabilization of muscle strength, early progressive scoliosis that may need surgical stabilization, and arthrodesis, respiratory insufficiency, normal intellectual function (in most cases), and normal cardiac function. 7,10,13 Early respiratory insufficiency is represented by a severe restrictive chest wall defect and limited mobility of the spine associated with respiratory muscle weakness accounts for most of the life-threatening complications, and any evidence of nocturnal hypoventilation may need early intervention and medical treatment.…”

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.…”

Novel and recurrent EMD mutations in patients with Emery–Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot

“…Both inter-and intra-familial variability in clinical symptomatology and age of onset occurs. 3 Distinguishing EDMD from other overlapping phenotypes, such as Becker muscular dystrophy, limb-girdle muscular dystrophy, facioscapulohumeral muscular dystrophy (FSHD), spinal muscular dystrophy and rigid spine syndrome, 4 can be difficult without genetic testing. 5 Five genes have been associated with the EDMD phenotype (EMD, LMNA, FHL1, SYNE1 and SYNE2), but collectively they only account for 46% of EDMD patients, 6 suggesting the existence of other genes involved in the development of this disorder.…”