1/16. Rigid spine syndrome. Case report.We describe a patient who had difficulty in walking since toddling stage and presented proximal upper and lower member weakness which have evolved to a progressive limitation of neck and trunk flexure, compatible with rigid spine syndrome. The serum muscle enzymes were somewhat elevated and the electromyography showed a myopatic change. The muscle biopsy demonstrated an active and chronic myopathy. The dna analysis through PCR did not display any abnormality for dystrophin gene. The dystrophin by immunofluorescence was present in all fibers, but some interruptions were found in the plasma membrane giving it the appearance of a rosary. The test for merosin was normal.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
2/16. Primary brainstem injury: benign course and improved survival.Primary brainstem injury following head injury is a rare event. The victims often have features of supratentorial injury, and a primary isolated injury to the brainstem occurring due to shearing stresses or to injury from the tentorial edge is extremely rare. In the presence of supratentorial injury, these patients may have altered sensorium. Isolated brainstem injury may manifest itself as internuclear ophthalmoplegia, anisocoria, rigidity and cerebellar tremor. Such injuries are now being diagnosed more often due to improved imaging techniques. We treated nine such cases who had sustained primary brainstem injury in road traffic accidents, all but one of whom were subsequently independent. Primary brainstem injuries need not be associated with poor prognosis and mortality and may run a benign course with good quality of survival.- - - - - - - - - - ranking = 11.619927472978keywords = ophthalmoplegia (Clic here for more details about this article) |
3/16. Rigid spine syndrome. Two case-reports.Rigid spine syndrome is characterized by massive spinal rigidity, usually most marked in the cervical region. Stiffness of the peripheral joints is sometimes present. We report two cases. Patient 1 was a 12-year-old boy diagnosed at three years of age with Duchenne's muscular dystrophy because of delayed onset of walking. contracture of the Achilles tendons, flexion contracture of the elbows, and loss of motion of the cervical spine were the main findings during the current evaluation. Radiographs of the affected joints were normal. An electrocardiogram showed an incomplete left bundle branch block. Muscle enzyme activities were moderately elevated. A myopathic pattern was seen on the electromyogram. A muscle biopsy showed muscle fiber atrophy with peri- and endomysial fibrosis. Patient 2 was a 39-year-old man with a five-year history of isolated rigidity of the cervical spine thought to be due to a spondylarthropathy. Extension was the only movement possible at the cervical spine. The peripheral joints showed no motion range limitation. Findings were normal from radiographs of the spine and sacroiliac joints, an erythrocyte sedimentation rate determination, an electromyogram, and muscle enzyme activity assays. A muscle biopsy showed muscle fiber atrophy with peri- and endomysial fibrosis. DISCUSSION: Rigid spine syndrome is rare in rheumatological practice and can simulate a number of other muscle and joint diseases. Peri- and endomysial fibrosis may be strongly suggestive, although nonpathognomonic. Involvement of the heart governs the prognosis.- - - - - - - - - - ranking = 37.401238532585keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
4/16. genetic heterogeneity of congenital muscular dystrophy with rigid spine syndrome.Rigid spine syndrome is a neuromuscular disorder characterised by early rigidity of the spine due to axial muscle contractures, generally associated with muscle weakness, limb-joint contractures, and often respiratory failure. This phenotype may be associated with several muscular diseases. In cases of merosin-positive congenital muscular dystrophies (CMD) with rigid spine syndrome, we have recently identified a new locus (RSMD1) on chromosome 1p35-36. In the present study, we report the clinical, morphological and genetic analysis of other patients affected by a CMD with rigid spine syndrome from nine consanguineous families. Homozygosity mapping showed that the disease was linked to RSMD1 in one of the nine families. The other families were excluded from RSMD1, and the patients presented highly variable phenotypes suggesting the involvement of more than one gene defect in rigid spine syndrome. Nevertheless, a subgroup of patients who never walked, and had very early rigidity of the spine and scoliosis, may be considered for further genetic analysis.- - - - - - - - - - ranking = 149.60495413034keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
5/16. amyotrophic lateral sclerosis with supranuclear ophthalmoplegia and rigidity.ophthalmoplegia is rarely reported in patients with amyotrophic lateral sclerosis (ALS). We describe a patient with sporadic ALS, who had developed progressive external ophthalmoplegia of supranuclear origin and rigidity in the neck. autopsy findings showed histopathological abnormalities consistent with ALS. In addition to these findings, there was neuronal loss and gliosis in the putamina and globi pallidi, and gliosis in the periaqueductal gray matter. Our case appears to raise the possibility that ALS comprises a heterogenous group of disorders.- - - - - - - - - - ranking = 58.09963736489keywords = ophthalmoplegia (Clic here for more details about this article) |
6/16. Bilateral substantia nigra changes on MRI in a patient with encephalitis lethargica.A 33-year-old woman admitted for meningoencephalitis had features of encephalitis lethargica develop on her third day of illness. She had ophthalmoplegia, akinetic mutism, and prominent extrapyramidal signs consisting of lip and hand tremors, cogwheel rigidity, and facial bradykinesia.- - - - - - - - - - ranking = 11.619927472978keywords = ophthalmoplegia (Clic here for more details about this article) |
7/16. Stiff-Baby--an unusual manifestation of cytoplasmic body myopathy: report of one case.A 2-month-old male baby was admitted to our hospital with episodic cyanosis and respiratory failure which required mechanical ventilation. He was found to have upper limb flexion rigidity and poor weight gain since one month old. Progressive muscle stiffness over the abdomen, chest wall, back and four limbs were also noted. He could not be weaned from the ventilator smoothly due to recurrent CO2 retention. Laboratory tests revealed a high serum creatine kinase level. Cytoplasmic body myopathy was confirmed by muscle biopsy. The unusual initial presentations of generalized stiffness and early onset of respiratory failure were quite different from those of patients reported in the literature, who had floppiness, muscular atrophy and weakness. prednisolone and vigabatrin were given and the patient showed slight improvement in muscle stiffness and spontaneous movement.- - - - - - - - - - ranking = 5keywords = myopathy (Clic here for more details about this article) |
8/16. Dysferlinopathy associated with rigid spine syndrome.Dysferlinopathy and rigid spine syndrome occurring in a 50-year-old man is reported. The patient noticed stiffness of knee and ankle joints, which gradually extended to neck, wrist and elbow joints leading to difficulty in anterior flexion. Muscular weakness and wasting of the lower extremities had developed since age 40, accompanied by a limitation of anterior bending of the spine. Elevated serum CK was noticed. Muscle CT revealed atrophy with moderate fatty replacement of muscles in the neck, shoulder and pelvic girdle, and marked replacement in the para-vertebral muscles, posterior compartment of hamstrings and calf muscles. electromyography showed a typical myogenic pattern, and muscle biopsy disclosed dystrophic changes, compatible with limb-girdle muscular dystrophy 2B. Loss of dysferlin expression was verified by immunohistochemistry, which was confirmed by a mini-multiplex Western blotting system. Gene analyses of the dysferlin gene disclosed compound heterozygotes for frameshift (G3016 1A) and a missense mutation (G3370T). This study might propose some clues to resolve the combination of musular dystrophies and rigid spine syndrome.- - - - - - - - - - ranking = 37.401238532585keywords = muscular dystrophy, dystrophy (Clic here for more details about this article) |
9/16. Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spine.Early spinal rigidity is a nonspecific feature reported in diseases such as neuromuscular and central movement disorders. We present a male patient with rigid spine muscular dystrophy caused by newly identified compound heterozygote mutations of the selenoprotein N gene and discuss this disease as a possible differential diagnosis for early-onset reduced spine mobility. Rigid spine muscular dystrophy is a rare myopathy presenting in childhood with a typical combination of stable or slowly progressive mild to moderate muscle weakness, limitation in flexion of the spine, and progressive restrictive ventilatory disorder. The clinical features of our patient include early-onset rigidity of his spine, scoliosis, mild muscular weakness predominantly of neck and trunk flexors, and restrictive ventilatory disorder. biopsy of the biceps muscle revealed nonspecific myopathic changes, and molecular analysis confirmed the diagnosis of rigid spine muscular dystrophy. Thus, neuromuscular diseases such as muscular dystrophy must be considered in all patients presenting with early spinal rigidity, and genetic determination is a possible way to determine the diagnosis.- - - - - - - - - - ranking = 300.20990826068keywords = muscular dystrophy, dystrophy, myopathy (Clic here for more details about this article) |
10/16. Rigid spine syndrome and rigid spine sign in myopathies.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.- - - - - - - - - - ranking = 1keywords = myopathy (Clic here for more details about this article) |
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