The rigid spine syndrome.

Abstract

SUMMARY Four patients are reported, 3 females and 1 male, with (as a prominent symptom of muscle disease) limitation of flexion of cervical and dorsolumbar spine. The nosological classification of these cases is discussed. In two patients there was evidence of an inclusion body myositis. At necropsy one of these patients had a remarkable distribution of muscle changes.The rigid spine syndrome is an unusual muscular disorder first described in 1965 by Dubowitz,' and later on by the same author2-4 and several others. decreased and she tended to walk on her toes. By age 12 years, there was an apparent rigidity of the spine, and she had difficulty going upstairs. Her body weight decreased. Limitation of neck-and back-flexion progressed slowly over the next years. Lumbar lordosis was exaggerated to 1120 at the age of 19 years. Gradually, respiratory capacity became impaired, partly because of extreme flattening of her chest; the midsagittal diameter from spine to sternum and from spine to abdominal wall was only 4 5 cm (fig 1). Muscle weakness in arms and legs was not apparently progressive. Her intelligence was normal and there was no family history.Examination revealed a very thin girl with acrocyanosis, a deformed very flat chest, winged shoulders and rigid spine with striking flxed lordosis (fig 2). Anteflexion of the cervical and lumbar spine was nearly impossible, while extension, rotation and lateral flexion were also already limited. There were flexion contractures of hips, knees and feet. The extremity weakness was moderate, more proximal than distal, while pelvic girdle muscles were more affected than shoulder girdle muscles. There was no gross atrophy. Respiratory movements of the chest were not strong and with little excursion. Tendon reflexes were symmetrically sluggish. There were no sensory abnormalities.Radiological examination of the spine revealed a slight thoracic left convex scoliosis of 100. Lateral radiographs showed a striking cervical and lumbar hyperlordosis. No ankylosis or destructive lesions were noted, or osseous pathology, ECG was initially normal, later on right axis deviation was seen.Laboratoryfindings: CK levels were increased (about 3 to 5 times normal levels) at several occasions. Routine blood and urine examination was normal. There was no evidence of specific infections. Alpha-glucosidase activity in leucocytes was normal. Karyotyping of leucocytes showed no abnormalities (no XO anomaly). Respiratory function tests revealed a restrictive defect (vital capacity 1-350 1; normal 4.400 1). EMG of the erector spinae muscle showed a myopathic pattern. Motor and sensory conduction were normal.Muscle biopsy findings (see table 1): The first biopsy was on the quadriceps muscle at age 16. At age 19, a biopsy specimen was taken from the erector trunci muscle. Light microscopy of both specimens was similar, but the second 1292

Dysferlinopathy associated with rigid spine syndrome

“…Rigid spine syndrome (RSS) is also a heterogenous disease with a broad spectrum of skeletal and muscular disorders, and a prominent feature in the X‐linked, AD and/or AR forms of Emery–Dreifuss muscular dystrophy, 24 nemalin and other congenital myopathies 25,26 . It is also noticed in late‐onset myopathy with prominent spinal extensor contractures 27 . A distinction between spinal rigidity in other myopathies and essential RSS has been discussed, 28 and there has even been doubt cast on the existence of a distinct syndrome 29 .…”

Rigid Spine Syndrome: A Radiologic and Manometric Study of the Pharynx and Esophagus

“…RSS is a group of childhood-onset muscle disorders characterized by marked limitation of flexion of the spine; contractures of limb joints, especially the elbows; mild and nonprogressive proximal weakness; a progressive scoliosis; moderately elevated muscle enzymes; a "myopathic" electromyogram pattern in spinal muscles; and histologic features of a nonspecific myopathy, often with marked fibrosis [5][6][7][8][9]. Doubts have been expressed about whether RSS is a single nosologic entity because the hereditary patterns, degree and distribution of weakness, cardiac involvement, and the muscle histology vary considerably in the reported cases [10,11].…”

Análise imunocitoquímica do infiltrado inflamatório na miosite com corpos de inclusão citoplasmática e em outras doenças neuromusculares com vacúolos marginados

“…NK C3 IgA IgG IgM Caso IT IF PV IT IF PV IT IF PV IT IF PV IT IF PV IT IF filamentares não são achados específicos, tendo sido descritos em diversas doenças neuromusculares 7,8 . Vacúolos marginados já foram relatados em casos de miopatias distais 6,30,31 , distrofia oculofaringéia 32 , polimiosite 6 , distrofia de cinturas pélvica e escapular 4,6 , miopatia congênita 6 , síndrome da espinha rígida 7,33 , atrofia muscular espinhal 6 e em processos de desinervação 7,34 .…”