Atypical presentations of DYT1 dystonia with acute craniocervical onset.

DYT1 gene mutations lead to early-onset dystonia that begins with focal limb onset and spreads to other body regions within 5 years, with typical sparing of the oromandibular muscles. In the present study, we describe two patients with an unusual presentation of the disease.

The cognitive features of idiopathic and DYT1 dystonia.

Dystonia is a common movement disorder. In this paper, we review the literature on cognitive function in idiopathic and DYT1 dystonia. In idiopathic or DYT1 dystonia, cognition is largely intact with only isolated executive dysfunction. Dystonia patients also have increased temporal and spatial discrimination thresholds, considered endophenotypes of the disorder because deficits are also shown by unaffected relatives and nonmanifesting carriers of the DYT1 mutation. Anticholinergic medication in high doses can be associated with memory impairment in dystonia. The successful treatment of dystonia with botulinum toxin injections or deep brain stimulation does not produce any major adverse effects on cognition. The aspects of cognition that require further investigation in future studies of dystonia include inhibitory control, decision making, and social cognition. © 2017 International Parkinson and Movement Disorder Society.

[Cognitive functions in patients with primary torsion dystonia treated with pallidal deep brain stimulation].

Forty-three patients with primary dystonia underwent neuropsychological assessment according to the method of A.R. Luria. Twenty-three patients with generalized dystonia and 20 with local forms (cervical and craniocervical) were included in the study. All patients were evaluated before pallidal deep brain stimulation (DBS GPi), 32 patients were examined 3-6 days after surgery, and 26 patients - during the first two years of the postoperative follow-up. The evaluation before surgery revealed cognitive impairment in 41 patients. The most common were mnemonic impairment, inertness and preservation in different tests, and spatial function decline. Thus, patients with local forms more frequently had troubles with performance memory tests, whereas spatial function disorders were more common in patients with generalized forms. The deterioration of cognitive functions was observed in 28 patients in the early postoperative period. Moreover, the group of patients with local forms had poorer results. The neuropsychological evaluation after 3-6 months of the postoperative follow-up showed the restoration of cognitive functions to the preoperative level. Neuropsychological syndrome observed in patients with dystonia was generally similar to that found in patients with lesions of the frontal lobe, the caudate nucleus, and the cerebellum.

Fat embolism syndrome in a child with dystonia musculorum deformans.

A 16-year-old boy with dystonia musculorum deformans underwent an operation for removal of femoral implants and excision of the prominence at the greater trochanter of the left hip. He was found to have fat embolism syndrome at postoperative day 1 as evidenced by confusion, respiratory symptoms, chest radiograph changes, raised erythrocyte sedimentation rate, thrombocytopenia and fat in the urine and sputum.

Abnormal nuclear envelope in the cerebellar Purkinje cells and impaired motor learning in DYT11 myoclonus-dystonia mouse models.

Myoclonus-dystonia (M-D) is a movement disorder characterized by myoclonic jerks with dystonia. DYT11 M-D is caused by mutations in SGCE which codes for ɛ-sarcoglycan. SGCE is maternally imprinted and paternally expressed. Abnormal nuclear envelope has been reported in mouse models of DYT1 generalized torsion dystonia. However, it is not known whether similar alterations occur in DYT11 M-D. We developed a mouse model of DYT11 M-D using paternally inherited Sgce heterozygous knockout (Sgce KO) mice and reported that they had myoclonus and motor coordination and learning deficits in the beam-walking test. However, the specific brain regions that contribute to these phenotypes have not been identified. Since ɛ-sarcoglycan is highly expressed in the cerebellar Purkinje cells, here we examined the nuclear envelope in these cells using a transmission electron microscope and found that they are abnormal in Sgce KO mice. Our results put DYT11 M-D in a growing family of nuclear envelopathies. To analyze the effect of loss of ɛ-sarcoglycan function in the cerebellar Purkinje cells, we produced paternally inherited cerebellar Purkinje cell-specific Sgce conditional knockout (Sgce pKO) mice. Sgce pKO mice showed motor learning deficits, while they did not show abnormal nuclear envelope in the cerebellar Purkinje cells, robust motor deficits, or myoclonus. The results suggest that ɛ-sarcoglycan in the cerebellar Purkinje cells contributes to the motor learning, while loss of ɛ-sarcoglycan in other brain regions may contribute to nuclear envelope abnormality, myoclonus and motor coordination deficits.

Status dystonicus a rare complication of dystonia.

A severe episode of dystonia refractory to standard drug therapy has been labeled as status dystonicus or dystonic storm. We report the development of this complication in a 10-year old boy with idiopathic torsion dystonia, the probable precipitating factor being either an infection or introduction of clonazepam.

Congenital mesenteric abnormality causing death in an infant with a concurrent diaphragmatic hernia.

The principle causes of infant death are natural causes [including the Sudden Infant Death Syndrome (SIDS)]. Natural deaths in infants are principally due to infections, cardiovascular anomalies and other metabolic or genetic disorders. Gastrointestinal pathology including anomalies may also cause death in this age group. This case describes a 6 month old boy who had undergone repair of a diaphragmatic hernia when aged 2 days, but who subsequently died as a result of a mesenteric abnormality with torsion of the gut and a large fibrous walled bowel containing hernial sac in the left pleural cavity.

Widespread nevus spilus associated with torsion dystonia: a case report.

Usually speckled lentiginous nevus or nevus spilus is a small solitary lesion consisting of a light tan patch with numerous dark brown macules or papules (or both) within it. It is occasionally associated with complex birth defects such as phacomatosis pigmentovascularis, phacomatosis pigmentokeratotica, or speckled lentiginous nevus syndrome. Uncommon presentations include large segmental lesions that may or may not be systematized and can sometimes be associated with other anomalies. We hereby report a 6-year-old Caucasian patient with systematized nevus spilus associated with torsion dystonia, a combination not published thus far.

Subluxación primaria recidivante medial de rótulas. Revisión a largo plazo de un caso asociado a síndrome de desalineación torsional severa / Primary recurrent medial subdislocation of both patellae. Long-term review of an exceptional case of miserably malalignment syndrome

Presentamos una revisión a largo plazo de una chica de 11 años de edad con subluxación medial recidivante de ambas rótulas de varios meses de evolución asociado a síndrome de desalineación torsional severa. No ha sido descrito ningún caso de luxación o subluxación medial de rótulas hasta el momento. Había sufrido luxación medial de la rótula derecha tres años antes tras un salto, reducida por ella misma y no inmovilizada, seguida de 10 episodios de subluxación y tres de luxaciones mediales. Acudió a consulta por imposibilidad a la deambulación por subluxación persistente o habitual y al dolor fémoro-rotuliano, principalmente en la rodilla derecha. Presentaba subluxación medial habitual de rótulas, con desplazamiento rotuliano medial, amiotrofia cuadricipital, inestabilidad medial evidente de ambas rótulas. El test de supresión medial era positivo. Mostraba anteversión femoral excesiva de caderas (RI: 90º, RE: 30º), genu varum, torsión tibial neutra, patella alta, surcos trocleares displásicos con hipoplasia del cóndilo medial y rótulas displásicas (Wiberg tipo III). Se realizó osteotomía femoral subtrocantérea desrotatoria y realineación proximal rotuliana bilateral. Tras la cirugía recuperó la estabilidad rotuliana bilateral, marcha y carrera normales, con tests de Smillie y aprehensión (-), y movilidad de cadera de RE: 65º, RI: 50º. Quince años tras la cirugía la paciente aquejaba dolor antero-lateral de la rodilla derecha en la deambulación prolongada, al subir y bajar escaleras y la sedestación prolongada, que se diagnosticó de síndrome de hiperpresión rotuliana externa

We present a long-term review of a girl aged 11 years and 4 months with medial primary recurrent subluxation of both patellae of several months evolution associated with miserably malalignment syndrome. Not one case of medial recurrent dislocation of the patellae has been described previously. Three years previously following a jump she had suffered a right patellar luxation - self-reduced and not immobilised - followed by 10 subsequent episodes of subluxation and three more medial luxations. She could hardly walk autonomously due to persistent or habitual subluxation and patellofemoral pain, mainly in the right knee. Physical examination revealed habitual medial subluxation of both patellae, with clear medial patellar displacement, quadriceps amyotrophy and medial instability. The medial subluxation suppression test was positive. She showed excessive femoral anteversion of the hips (IR: 90º, ER: 30º), genu varum, neutral tibial torsion, patella alta, dysplastic trochlear grooves with medial condyle hipoplasia and both patellae were dysplastic (Wiberg type III). We performed a derotation subtrochanteric femoral osteotomy and bilateral proximal patellar realignment. Following surgery, bilateral stability of both sides permitted normal walking and running, as well as apprehension and the Smillie test (-), with a hip mobility of 65º ER and 50º IR. Fifteen years after the surgery the patient complains of antero-external knee pain in the right knee during prolonged walking, in getting up and down stairs and when in a prolonged sitting position, diagnosed as excessive lateral pressure syndrome

Defective temporal processing of sensory stimuli in DYT1 mutation carriers: a new endophenotype of dystonia?

DYT1 primary torsion dystonia is an autosomal dominant movement disorder due to a 3-bp GAG deletion in the TOR1A gene, which becomes manifest in only 30-40% of mutation carriers. Investigating the factors regulating this reduced penetrance might add new insight into the mechanisms underlying the disease. The pathophysiology of dystonia has been related to basal ganglia dysfunctions that lead to the most prominent motor symptoms. However, subclinical sensory deficits have also been reported, particularly in adult-onset focal dystonia. Sensory abnormalities in different forms of sporadic dystonia have been revealed by using a psychophysical method, namely, the temporal discrimination threshold (TDT), quantified as the shortest time interval at which the two stimuli are perceived as separate. Little or no information about the presence of sensory abnormalities in DYT1 gene manifesting and non-manifesting carriers is available. With the aim of disclosing possible associations between sensory deficits and the DYT1 mutation, we assessed TDTs of DYT1 manifesting patients (n = 9); DYT1 non-manifesting relatives (n = 11); non-carrier relatives (n = 9); external control subjects (n = 11). Pairs of tactile, visual or visuo-tactile stimuli were delivered in blocked, counterbalanced order. Intervals between stimuli increased from 0 to 400 ms (in 10 ms steps). On each trial, subjects had to report whether stimuli occurred simultaneously or asynchronously. We measured the first out of three consecutive inter-stimulus intervals at which subjects recognized the two stimuli as temporally separated (TDT) and the first of three consecutive intervals at which they also reported correctly which stimulus in the pair preceded (or followed) the other temporal order judgment (TOJ). Results showed higher tactile and visuo-tactile TDTs and TOJs in DYT1 carriers, both manifesting and non-manifesting, compared with non-carrier relatives and with external control subjects (for all comparisons, P < 0.039). This finding indicates that the DYT1 mutation determines subclinical sensory alterations, which could be disclosed by a psychophysical task. Moreover, these results have the notable implication that sensory deficits in dystonia are not a mere consequence of abnormal movements, but they may even occur before overt clinical manifestations, representing a subclinical phenotype in DYT1 mutation carriers.

Caesarean section in a patient with torsion dystonia.

We present a case of torsion dystonia in a 35-yr-old primigravida who presented for a Caesarean section under general anaesthesia. She had limb contractures and severe kyphoscoliosis associated with limited respiratory reserve and function. General anaesthesia was induced using thiopental and divided doses of mivacurium for rapid sequence induction. After the delivery of a healthy male baby, she received i.v. morphine and bilateral iliohypogastric, ilioinguinal blocks and had an uneventful recovery. Technical issues of supine positioning, intubation and respiratory support need to be considered during anaesthesia planning. Although regional anaesthesia is commonly offered for caesarean section, maternal compromise and technical factors may preclude this approach.

[A case of idiopathic torsion dystonia showing blepharospasm at the onset].

We report a 12-year-old boy with idiopathic torsion dystonia. Blepharospasm appeared at the age of 10, followed by truncal hypertonia and progressive scoliosis after 1 year. He had bizarre involuntary movement of his limbs upon waking, which was initially misinterpreted as a psychogenic reaction. Routine neurological examinations revealed no abnormality. Treatment with diazepam, bacrophen, 1-dopa, and clonazepam, led to only short time improvement of symptoms. At the age of 14, his symptoms gradually improved in natural course. At present he is 15 years old, and capable of normal daily activities. His clinical course was not typical of idiopathic torsion dystonia and very rare in children.

Spinal lordosis with marked opisthotonus secondary to dystonia musculorum deformans: case report with surgical management.

STUDY DESIGN: A case report of severe spinal lordosis with marked opisthotonus and retrocollis secondary to dystonia musculorum deformans is presented. OBJECTIVE: To describe a case of dystonia musculorum deformans with progressive spinal lordosis and its surgical treatment. SUMMARY OF BACKGROUND DATA: Four patients with correction of coronal spinal deformity associated with dystonia musculorum deformans have been reported in the literature. No reports of sagittal spinal deformity treated with surgical instrumentation and fusion were found. METHODS: A retrospective chart and radiographic review of a single case was conducted. RESULTS: Orthotic management and pharmacologic therapy with botulinum toxin injections were unsuccessful in controlling the deformity. Severe spinal lordosis (170 degrees ) from occiput to sacrum was corrected surgically, allowing an upright posture. CONCLUSION: Dystonia musculorum deformans is a rare condition resulting in coronal or sagittal plane deformities. When other treatment methods are unsuccessful, surgical instrumentation and arthrodesis may correct the deformity and improve function.

Oral rehabilitation using osseointegrated implants in a patient with idiopathic torsion dystonia.

Idiopathic torsion dystonia is a motor syndrome characterized by dystonic movements and postures in the absence of other neurologic deficits. The condition involves prolonged spasms of muscle contraction that distort the body into typical postures. Such distortions involving the head and the neck make conventional denture use in edentulous patients very difficult. The present paper reports on a patient with idiopathic torsion dystonia who was treated with a mandibular overdenture supported by endosteal implants, which enabled the establishment of a stable occlusion and improved the dynamics of the masticatory muscles for chewing.

Treatment of cerebral origin spasticity with continuous intrathecal baclofen delivered via an implantable pump: long-term follow-up review of 18 patients.

OBJECT: The goal of this study was to assess the long-term benefits of managing severe spasticity by using continuous infusion of intrathecal baclofen delivered via an implantable pump. METHODS: Eighteen patients with severe spasticity of cerebral origin, who failed to respond adequately to more conservative treatments, have-been treated with continuous infusion of intrathecal baclofen delivered via an implanted pump. Follow-up review of these patients has lasted between 12 months and 9 years. The patients have been assessed using a variety of tools. Seventeen have had a significant reduction in tone and all have benefited by a reduced need for nursing care or increased function or both. CONCLUSION: Long-term continuous infusion of intrathecal baclofen delivered via an implantable pump offers an effective method for dealing with otherwise intractable spasticity.

[The surgical results in patients with different forms of torsion dystonia]. / Rezul'taty khirurgicheskogo lecheniia bol'nykh s razlichnymi formami torsionnoi distonii.

The paper describes stereotactic operations made in 278 patients with different forms of torsion dystonia during 20 years. Late outcomes were studied and assessed in 130 patients. The duration of follow-ups was 3 to 23 years. The patients' mean age at surgery was 30.5 years. The indications for surgical treatment were ineffective medical treatment and progressive disease. Positive early and late postoperative outcomes were achieved in 93 and 70% of patients, respectively. Complications developed in 3.2 and 12.3% of patients after the first and second operations, respectively. The positive outcome depends on the form, etiology, the destructible structure or a complex of structures. Surgical treatment of patients with torsion dystonia by stereotactic operations on basal ganglia is an effective treatment that provides a steady-state positive result in 70% of patients in the late period.