ABSTRACT
We studied eight patients with rigid spine syndrome aged 8 to 20 years at the time of first examination. Muscle weakness, rigid spine, and flexion contracture of elbows and ankles were noted in the first 6 years of age. Radiological study of the cervical spine revealed considerable reduction not only of flexion, but also of extension, of the neck. The "alligator sign" was demonstrated. Progression of scoliosis and of contractures reduced the functional capacity in six patients. A restrictive ventilatory syndrome was observed in all, while central apneas with oxygen desaturation were shown in two. Cardiac arrhythmias were observed in four. We suggest that a distinction should be made between myopathic rigid spine and rigid spine syndrome. Myopathic rigid spine is a clinical sign which is rarely sought but is present in several types of well-defined myopathies, meaning the myopathic involvement of the extensor muscles of the spine. Rigid spine syndrome is an axial myopathy with peculiar clinical and radiographic signs and a characteristic natural history.
Subject(s)
Muscle Rigidity/diagnosis , Spinal Diseases/diagnosis , Adolescent , Adult , Cervical Vertebrae/diagnostic imaging , Child , Contracture/diagnosis , Diagnosis, Differential , Electromyography , Female , Humans , Male , Muscle Rigidity/genetics , Muscular Atrophy/diagnosis , Radiography , Scoliosis/diagnosis , Spinal Diseases/genetics , SyndromeABSTRACT
This is a report on the natural history of 109 patients with infantile spinal muscular atrophy (SMA). All 18 children with the severe form died, as did five of the 52 with the intermediate form. Functional ability was more or less stable in the 47 living patients with the intermediate form, but 16 of the 39 with mild SMA lost the ability to walk. Ventilatory function was severely impaired in those with intermediate SMA: orthopaedic treatment for scoliosis in this group did not prevent the curves from worsening with age. Scoliosis was also severe in patients with mild SMA who had stopped walking: surgical treatment in six cases resulted in stable correction of the spine, with functional and cosmetic improvement and without impairment of respiratory function.
Subject(s)
Muscular Atrophy, Spinal/complications , Scoliosis/therapy , Spinal Muscular Atrophies of Childhood/complications , Adolescent , Adult , Child , Child, Preschool , Humans , Prospective StudiesABSTRACT
To study the natural history of scoliosis in spinal muscular atrophy (SMA), 63 spinal radiographs of affected patients who attended the Muscle Clinic of Rizzoli Orthopaedic Institute between 1974 and 1988 were reviewed. All but one of the intermediate SMA patients, and all of the mild SMA patients who stopped walking had a scoliosis that ranged from 10 degrees to 165 degrees. Out of the 19 mild SMA patients still able to walk, 12 had a scoliosis ranging from 10 degrees to 45 degrees. Mean age at the onset of scoliosis was 4 years 4 months in intermediate SMA, and 9 years 10 months in mild SMA. Data on characteristics of the scoliotic curve are reported. The effectiveness of orthopaedic treatment in the prevention of scoliosis is discussed.
Subject(s)
Muscular Atrophy, Spinal/complications , Scoliosis/etiology , Spinal Muscular Atrophies of Childhood/complications , Adolescent , Child , Child, Preschool , Female , Humans , Male , Scoliosis/therapyABSTRACT
We reviewed the incidence and severity of scoliosis in 37 patients with the intermediate type and 26 with the mild type of spinal muscular atrophy. In the intermediate type, scoliosis has an early onset and rapid progression before puberty, and a spinal fusion will be needed in virtually all cases. This rapid progression occurred despite routine use of a spinal brace. Hip dislocation was frequently present but, in most cases, was secondary to the pelvic tilt and did not contribute to the scoliosis. In the mild type, the scoliosis was more variable. In the 30% of patients who had scoliosis, progression was rapid during puberty but only in those who had lost ambulation. Of the four children with the intermediate type and the seven with the mild type who walked in light-weight orthoses, progression of scoliosis was slow, except in those who had lost ambulation. The ultimate effect of walking in orthoses is difficult to assess because of small numbers, but it seems to slow or at least delay progressive scoliosis.
Subject(s)
Muscular Atrophy, Spinal/complications , Scoliosis/etiology , Spinal Muscular Atrophies of Childhood/complications , Adolescent , Adult , Child , Child, Preschool , Cross-Sectional Studies , Disability Evaluation , Female , Follow-Up Studies , Humans , Longitudinal Studies , Male , Scoliosis/surgery , Spinal Fusion , Vital CapacityABSTRACT
We report a case of severe cervical spinal stenosis due to ossification of the posterior longitudinal ligament (OPLL) whose clinical examination showed no symptoms or signs of neurological damage ("silent OPLL"). Questions about the diagnosis and the treatment of silent OPLL are discussed in the light of published data.
