Endodontic Treatment of a Patient With Huntington’s Disease

Frontiers in Neurology, 2019

Given that any symptoms of Huntington's disease (HD) may be worsened by stress, fatigue and intercurrent disorders (e.g. anxiety, digestive disorders, infectious or painful conditions, etc.), these aspects must be assessed and should be treated with appropriate measures in parallel with treating the Huntington's symptoms (Professional agreement). Motor disorders The wide spectrum of motor manifestations are the best known and the most visible symptom in Huntington's disease. Among them, involuntary movements (i.e. chorea) are the most obvious. However, while the diagnosis of manifest HD is based on the presence of motor symptoms, these are frequently preceded by cognitive and behavioral symptoms (1). While motor symptoms are easily detected, and might be the source of anxiety and ostracism, they are often well tolerated by the patients and their proxies in contrast to cognitive and behavioral symptoms that often lead to family and social/professional's issues. Chorea Chorea is characterized by abnormal, involuntary, spontaneous, uncontrollable, irregular, intermittent, non-rhythmic and aimless movements affecting the trunk, the face and the limbs. They are worsened by fatigue and challenges such as emotional stress, and usually disappear during sleep. Affecting about 90% of the patients, chorea is a key element of establishing the clinical diagnosis, but is not always a marker of the severity of the disease (2). Chorea may be absent at the beginning of HD or appear transiently during the course of the disease, and is rarely present with juvenile onset. After motor onset, chorea usually progresses towards a peak phase and then commonly decreases in severity in the later stages of HD, at which time it may disappear alongside an increase in rigidity and/or dystonia (3). Recommendations 1. Drug treatment should be considered if chorea causes the patient distress or discomfort (Professional agreement). 2. Tetrabenazine was shown to have a beneficial effect on chorea (Grade A) (4-20) and is one of the first-line treatments for this symptom. 3. Tetrabenazine has to be used with caution due to the potential of adverse events, which should be explained to patients and relatives/caregivers (Professional agreement). 4. Tetrabenazine is contraindicated when the patient suffers from not well-managed depression or suicidal thoughts, as specified in the product monographs. 5. Tiapride (21-27), sulpiride (28-33) (Grade B), olanzapine (34-43), risperidone (28,44-49), pimozide (9,24,50,51) and aripiprazole (52-57) (Grade C) showed efficacy on chorea and are first-line treatments for this symptom in particular when the patients have associated personality and/or behavioural or psychotic disorders. 6. Haloperidol has a national marketing authorization for chorea in some countries (Grade C) (58-63). It should be considered as second-line treatment but should be used with caution due to the risk of major apathy (Professional agreement). 7. Because of contradictory results in various trials, amantadine cannot be recommended to treat chorea (Grade B) (63-67). However, despite the poor tolerability (confusion and legs oedema) of amantadine several experts of the multidisciplinary group, consulted to evaluate the recommendations, reported a beneficial effect of amantadine to treat chorea. 8. On a regular basis, ongoing treatments should be re-evaluated for their efficacy and tolerability. If effective and well-tolerated, changing ongoing treatment is not recommended (Professional agreement). 9. It may be necessary to reduce the dose or change a neuroleptic or tetrabenazine if the patient experiences adverse events such as worsening of apathy or extrapyramidal side effects (Professional agreement). 10. Monotherapy to treat chorea is preferred because combination therapy (e.g. tetrabenazine and neuroleptic) increases the risk of adverse effects and may complicate the management of non-motor symptoms. Adjunct therapy should therefore be considered on a case-by-case basis for patients who do not respond significantly to monotherapy (Professional agreement). 11. Riluzole (Grade A) (39,68-71) and memantine (Grade C) (44,72-74) are not indicated for the management of chorea. 12. Globus pallidus Deep Brain Stimulation (DBS) (either internal or external) is not yet recommended in severe pharmacoresistant chorea (Grade C) (75-86). The technic is currently assessed in therapeutic trials. 13. In the presence of disturbing chorea, appropriate protective measures (for meal time, washing, bedding, transfers...) should be put in place in order to avoid traumatic injury or chokes. Rehabilitation specialists such as occupational therapists, psychomotor therapists, speech therapists, physiotherapists can help identify appropriate assistive technology devices and positioning techniques (Professional agreement). 14. Where there are recurrent oral-lingual injuries due to biting, mouth guards (splints) may be prescribed, in collaboration with a dentist/oral health specialist where possible. The choking risk due to mouth guards should also be considered (Professional agreement). 15. As an adjuvant measure, therapies that might act by relaxing the patient (e.g. aquatherapy or bathing) might be of benefit to improve transitorily chorea symptoms (Professional agreement). Dystonia Dystonia is highly prevalent in HD patients (90%) and is characterized by abnormal postures that may affect all body segments and is frequently associated with rigidity (54-59)(87). When dystonia manifests in HD, the intensity varies from a slight intermittent abnormal posture, without any impact on independence, to severe twitch of muscles with major impact on movements and functions of daily living. It can lead to impaired chewing and swallowing (for dystonia of the face and the neck), joint deformities, and compromise a comfortable sitting position and prevent secure ambulation (especially when severe axial dystonia is present). Recommendations 1. Both active rehabilitation, with patient participation, and passive rehabilitation, without voluntary participation of patients, in physiotherapy are recommended as a preventive measure in order to maintain the range of joint motion, limit postural and musculoskeletal deformities and, prevent the development of contractures (Professional agreement). 2. The injection of botulinum toxin in the case of focal dystonia (e.g. cervical dystonia, blepharospasm, oromandibular dystonia) or to prevent secondary deformities (e.g. flexum, equinus) should be performed by a trained professional (Professional agreement). 3. The concomitant use of anticholinergic agents to prevent the side effects of neuroleptics has not demonstrated efficacy and should not be used (Professional agreement). 4. The use of adapted equipment, in particular customised chairs, can provide an optimised and comfortable environment in view of the dystonia-related deformities (Professional agreement). Rigidity Rigidity is an increase in muscle tone leading to a resistance to passive movement that can induce joint stiffness and limited range of motion. In HD, it might be related to spasticity and/or parkinsonism (with bradykinesia). Bradykinesia is the slowness of initiation of voluntary movement with a reduction of speed and amplitude, particularly of repetitive actions. Akinesia is a severe degree of bradykinesia leading to inability to initiate voluntary movement. In HD, bradykinesia frequently coexists with involuntary choreatic movements. At late stages, when choreatic activity declines, most HD patients develop an akinetic-rigid syndrome often with a generalized increased tone. Juvenile or late-onset patients often exhibit a predominantly bradykinetic phenotype with or without rigidity but little to no chorea (88). This phenotype might be misdiagnosed as atypical parkinsonism or a psychiatric condition. Recommendations Only low levels of scientific evidence have been provided for the treatments of rigidity and because of the risk of adverse events, they should be used with caution. Nevertheless, rigidity symptoms might be distressing for patients and the following treatments might be attempted on a case by case basis (Professional agreement). 1. Rigidity may be increased or induced by the use of neuroleptics or tetrabenazine. If this impacts the functional capacity of the patient, a reduction in dosage or the withdrawal of neuroleptics and/or tetrabenazine should be considered taking into account overall benefit on chorea and/or behavioural symptoms vs. severity of rigidity (Professional agreement).

Journal of Pharmaceutical Research International

Background: Huntington’s disease (HD) is a genetic neurodegenerative illness characterized by progressive nerve cell degeneration in the brain, mainly in the basal ganglia. It often manifests itself between the ages of 30 and 40. The disease is including inherited genetic genes, which means that the affected person inherits the gene from a parent who also has the same genes. In populations of western European origin, the incidence of inherited genetic diseases is 3-10 per 1,00000. In India, it is far less common. Case Presentation: This is a case of a 57 -year-old female schoolteacher who was brought to our institution with a trembling movement all over the body and imbalancing while walking. The clinical presentation of characteristics such as difficulty controlling his hands and fingers due to involuntary, uncontrolled motions is used to make the diagnosis He walked without a cane and seemed to be in good physical shape, yet when asked to sit, he slumps heavily into the chair. CT ...

Journal of Indian Orthodontic Society, 2021

Huntington’s disease is a progressive neurodegenerative disease characterized by motor, cognitive, and psychiatric symptoms. Dystonia of muscles is a characteristic feature of this condition. A case of Huntington’s disease, with orofacial dystonia, leading to severe uncontrolled biting of the lips, was referred by the Department of Neurology. Deep traumatic ulcerations were found in both upper and lower lips. A simple Essix retainer was fabricated and inserted, which acted as a barrier for the teeth from injuring the lips. The ulcers showed complete resolution in 3 to 4 weeks. The vacuum-formed retainers resulted in a good fit and resisted removal by the uncontrolled contortions of the orofacial muscles. The Essix retainer can be effectively used in improving the quality of life of patients, with Huntington’s disease, having such dystonia-related injuries to lips.

British Journal of Oral and Maxillofacial Surgery, 1985

A case report is presented describing how eminectomy proted to be successful in treating recurrent mandibular dislocation for a patient suffering from Huntington's Chorea.

2016

Schweizer Archiv für Neurologie und Psychiatrie, 2006

opment of curative treatments. They include metabolic support, neurotrophic intervention, cell replacement, transcriptional regulation and reducing the expression of the causative gene using small interfering RNA.

CoDAS, 2016

Huntington's disease (HD) is a degenerative genetic disorder with autosomal-dominant transmission. The triad of symptoms of this disease consists of psychiatric disorders, jerky movements, and dementia. Oropharyngeal dysphagia, which is more evident with disease progression, is also present. Few studies have addressed the swallowing characteristics using objective analysis in this population. The purpose of this research was to describe the swallowing endoscopic findings of the pharyngeal phase in HD. This is a cross-sectional study addressing a clinical case which included two individuals of the same family, male, 32 and 63 years old, designated as individual A and individual B, with progression of the disease for five and 13 years, respectively. Consistent liquid, nectar, and puree were offered during the evaluation. There was presence of posterior oral spillage in liquid and nectar, small amount of pharyngeal residues, and no laryngeal penetration or aspiration in the individuals with HD in this study.

2011

Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system characterized by unwanted choreatic movements, behavioral and psychiatric disturbances and dementia. Prevalence in the Caucasian population is estimated at 1/10,000-1/20,000. Mean age at onset of symptoms is 30-50 years. In some cases symptoms start before the age of 20 years with behavior disturbances and learning difficulties at school (Juvenile Huntington's disease; JHD). The classic sign is chorea that gradually spreads to all muscles. All psychomotor processes become severely retarded. Patients experience psychiatric symptoms and cognitive decline. HD is an autosomal dominant inherited disease caused by an elongated CAG repeat (36 repeats or more) on the short arm of chromosome 4p16.3 in the Huntingtine gene. The longer the CAG repeat, the earlier the onset of disease. In cases of JHD the repeat often exceeds 55. Diagnosis is based on clinical symptoms and signs in an individual with a parent with proven HD, and is confirmed by DNA determination. Pre-manifest diagnosis should only be performed by multidisciplinary teams in healthy at-risk adult individuals who want to know whether they carry the mutation or not. Differential diagnoses include other causes of chorea including general internal disorders or iatrogenic disorders. Phenocopies (clinically diagnosed cases of HD without the genetic mutation) are observed. Prenatal diagnosis is possible by chorionic villus sampling or amniocentesis. Preimplantation diagnosis with in vitro fertilization is offered in several countries. There is no cure. Management should be multidisciplinary and is based on treating symptoms with a view to improving quality of life. Chorea is treated with dopamine receptor blocking or depleting agents. Medication and non-medical care for depression and aggressive behavior may be required. The progression of the disease leads to a complete dependency in daily life, which results in patients requiring fulltime care, and finally death. The most common cause of death is pneumonia, followed by suicide.

Neurotherapeutics, 2008

This activity has been planned and implemented in accordance with the Essential Areas and Policies of the Accreditation Council for Continuing Medical Education (ACCME) to provide continuing medical education for physicians. The University of Rochester School of Medicine and Dentistry designates this educational activity for a maximum of 4.75 credits in the AMA PRA Category 1 Credit™ system. Physicians should claim credit only commensurate with the extent of their participation in the activity.

Geriatrics and Aging, 2002

Movement disorders have a high prevalence in the elderly. In fact, disorders of gait and mobility are second only to cognitive impairment as the most prevalent neurologic disorders of aging.1 Huntington’s disease (HD) is an inherited neurodegenerative disorder characterized by alterations in mood, memory and movement first described by George Huntington in 1872.2,3 Recent advances in the elucidation of the pathophysiology of this disease may have implications in the development of more specific and effective treatments. The following article will review the epidemiology, pathophysiology, clinical presentation, diagnosis and treatment of HD, including novel treatments currently under development.