Risk factors for spinal cord lesions in dystonic cerebral palsy and generalised dystonia.

BACKGROUND: Cervical myelopathy (CM) in patients with cerebral palsy (CP) is underdiagnosed as symptoms of spinal cord lesions, being similar to those due to dystonia, may be overlooked or identified late. The aim of this study is to identify the risk factors and clinical characteristics of CM in patients with generalised dystonia, including dystonic CP. METHODS: The authors conducted a case-control study to identify early clinical signs of CM in consecutive patients with generalised dystonia. The authors compared the clinical characteristics and symptoms of those who developed CM (cases) and those who did not (controls). The same clinical information on possible neurological manifestations of CM was collected for cases and controls at the date of the last visit. RESULTS: Out of 54 patients, 17 (31%) developed symptomatic CM during the study period. In all cases, CM occurred after the age of 36 years. 81% of cases and 35% of controls had a Burke-Fahn-Marsden movement subscore for the neck >4. Age (OR per 10 years=2.3, 95% CI 1.4 to 4.2, p=0.006) and severity of neck dystonia (OR=7.7, 95% CI 1.7 to 49.6, p=0.005) were the main risk factors of CM. Gait disorders and falls, wasting of hand muscles and bladder disorders were the best clinical clues of CM. CONCLUSIONS: As severity of cervical dystonia and age are the major risk factors for spinal cord lesions, dystonic patients, including patients with dystonic CP, should be screened for CM from the third decade of life onwards. Early recognition of CM is crucial for functional prognosis and impact on autonomy.

Speech disturbances in patients with dystonia or chorea due to neurometabolic disorders.

Speech disturbances are frequent and potentially disabling in patients with dystonia or chorea due to neurometabolic disorders (DCND), but their precise characteristics are poorly documented. We prospectively studied 29 consecutive patients with DCND. A detailed description of their speech patterns was obtained by using the Frenchay dysarthria assessment test and the apraxia of speech evaluation test of Wertz. Gross motor function and intelligibility were each scored on 5-point scales to identify a possible correlation between the severity of the speech and motor disorders. All the patients were found to have complex speech alterations with combined features of hyperkinetic dysarthria and speech apraxia. We also noted a correlation between the severity of the speech disorders and the motor disorders. These findings have important implications for speech rehabilitation, and may provide new insights into the pathophysiology of dystonia due to neurometabolic disorders.

Sinking skin flap syndrome and paradoxical herniation after hemicraniectomy for malignant hemispheric infarction.

BACKGROUND AND PURPOSE: "Sinking skin flap" (SSF) syndrome is a rare complication after large craniectomy that may progress to "paradoxical" herniation as a consequence of atmospheric pressure exceeding intracranial pressure. The prevalence and characteristics of SSF syndrome after hemicraniectomy for malignant infarction of the middle cerebral artery are not well known. METHODS: We analyzed a prospective cohort of 27 patients who underwent hemicraniectomy for malignant middle cerebral artery infarction. All had a clinical and brain imaging follow-up at 3 months and were followed until cranioplasty. RESULTS: Three of 27 patients (11%) had, at 3 to 5 months posthemicraniectomy, SSF syndrome with severe orthostatic headache as the main symptom. In addition, 4 patients (15%) had radiological SSF syndrome but no clinical symptoms except partial seizures in one. Patients with SSF syndrome had a smaller surface of craniectomy (76.2 cm(2) versus 88.7 cm(2), P=0.05) and a tendency toward larger infarct volume, an older age, and a longer delay to cranioplasty than those without this syndrome. CONCLUSIONS: SSF syndrome either clinically symptomatic or asymptomatic affects one fourth of patients 3 to 5 months after hemicraniectomy for malignant middle cerebral artery infarction. It should be diagnosed as early as possible to avoid progression to a paradoxical herniation.

Management of spasticity and dystonia in children with acquired brain injury with rehabilitation and botulinum toxin A.

OBJECTIVE: To investigate the effect of a combination of botulinum toxin A (BTX-A) and rehabilitation on spasticity, pain and motor functioning in children with acquired brain injury (ABI). METHODS: All children and adolescents with ABI, aged 2-20 years, consecutively treated in the department over a 22-month period, were prospectively followed-up and clinically assessed pre- and post-treatment. They had spasticity and/or dystonia leading to impairment in activities of daily living, orthopaedic deformations and/or pain. Injections were performed using electro-stimulation. Doses of BTX-A (Botox) were administered using recent recommendations. RESULTS: Twenty-five children (mean age 6.3 years) participated in the study (51 injection sessions). All patients received BTX-A injections, followed with physical and/or occupational therapy. Significant improvement was achieved for spasticity reduction (p < 0.0001), command on antagonist muscles (p = 0.03 for the tibialis anterior) and goniometry assessment (p < 0.05). Pain relief was achieved in patients in a minimally responsive state. Functional goals were achieved, such as improving transfers or gait, grasping and releasing abilities, with significant transfer in activities of daily living (p < 0.0001). CONCLUSION: A combination of BTX-A injection with rehabilitation is an interesting option for treatment of muscle tone disorders in children with ABI.

Myoclonus-dystonia due to maternal uniparental disomy.

BACKGROUND: Myoclonus-dystonia is a movement disorder often associated with mutations in the maternally imprinted epsilon-sarcoglycan (SGCE) gene located on chromosome 7q21. Silver-Russell syndrome is a heterogeneous disorder characterized by prenatal and postnatal growth restriction and a characteristic facies, caused in some cases by maternal uniparental disomy of chromosome 7. OBJECTIVES: To describe and investigate the combination of a typical myoclonus-dystonia syndrome and Silver-Russell syndrome. DESIGN: Clinical and neurophysiological examination as well as cytogenetic and molecular analyses. SETTING: Movement disorder clinic. Patient A 36-year-old man with typical myoclonus-dystonia and Silver-Russell syndrome. MAIN OUTCOME MEASURES: Clinical description of the disease and its genetic cause. RESULTS: Cytogenetic analysis revealed mosaicism for a small chromosome 7 marker chromosome. Microsatellite analysis indicated loss of the paternal allele and maternal uniparental disomy of chromosome 7. In keeping with the maternal imprinting mechanism, no unmethylated allele of SGCE was detected after bisulfite treatment of the patient's DNA, and reverse transcription-polymerase chain reaction demonstrated loss of SGCE expression. Molecular analysis ruled out mutations in the SGCE gene. CONCLUSIONS: We identified a new genetic alteration-maternal chromosome 7 disomy-that can cause myoclonus-dystonia. This alteration results in repression of both alleles of the maternally imprinted SGCE gene and suggests SGCE loss of function as the disease mechanism.

Subjective visual vertical perception relates to balance in acute stroke.

OBJECTIVE: To determine whether misperception of the subjective visual vertical (SVV) underlies balance difficulties in hemiplegic patients. DESIGN: Descriptive study, using a convenience sample. SETTING: Department of physical medicine of a university hospital. PARTICIPANTS: Thirty inpatients with hemiplegia after a hemispheric stroke during the 3 previous months. INTERVENTIONS: Not applicable. MAIN OUTCOME MEASURES: The SVV was tested while subjects sat in a dark room and were asked to adjust a luminous line to the vertical position. Mean SVV deviation and uncertainty, defined as the standard deviation, were calculated for 8 trials. Balance was assessed by the Postural Assessment Scale for Stroke (PASS) and while patients sat on a laterally rocking platform placed on a Satel force platform. The mean body position and the instability score (Lx), calculated as the length of the course of the center of pressure, were recorded. Functional outcome was also evaluated by the FIM instrument. RESULTS: An abnormal SVV was recorded for 20 of 30 patients. Balance (ie, PASS, Lx) and FIM correlated significantly with SVV tilt (P<.001, P=.01, and P<.001, respectively) and with uncertainty (PASS, P=.006; FIM, P=.003). CONCLUSIONS: Verticality misperception was related to poor balance and might be an important element in the assessment of contributing factors to balance disorders after stroke. It should probably be taken into account when establishing balance rehabilitation programs for patients with hemiplegia.