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Hyperkinetic Movement Disorders
Published in Philip B. Gorelick, Fernando D. Testai, Graeme J. Hankey, Joanna M. Wardlaw, Hankey's Clinical Neurology, 2020
Morales-Briceno Hugo, Victor S.C. Fung, Annu Aggarwal, Philip Thompson
ANO3-related dystonia (DYT24): Autosomal dominant isolated dystonia.Onset in the fourth to fifth decade but can start earlier.Cervical and laryngeal involvement at onset.May present as jerky cervical dystonia.Often remains segmental but can involve upper limbs.
Biotechnology products and indications I. Proteins
Published in Ronald P. Evens, Biotechnology, 2020
Botulinum toxins from the microbe Clostridium botulinum are employed in a wide range of conditions, primarily utilizing its muscle-paralyzing activity; they alter muscle function in various situations such as cervical dystonia, upper and lower limb spasticity, spasticity in cerebral palsy-stroke-trauma, strabismus, and blepharospasm; also, sialorrhea and axillary hydrosis; plus urinary incontinence in neurologic diseases; and, additionally, improvement in glabellar lines, forehead lines, and crow’s feet in cosmetic surgery; and migraine headaches and multiple sclerosis. Five products have been approved for use from seven companies, as noted in Table 8.7.
Hereditary Spastic Paraparesis and Other Hereditary Myelopathies
Published in Anand D. Pandyan, Hermie J. Hermens, Bernard A. Conway, Neurological Rehabilitation, 2018
Jon Marsden, Lisa Bunn, Amanda Denton, Krishnan Padmakumari Sivaraman Nair
Recommendations for the symptomatic treatments of spasticity, Parkinsonism, dystonia, and cramps have been outlined and include benzodiazepines, baclofen, and carbamazepine.115,116 A case study has described the use of botulinum toxin injections for lower limb spasticity and cramps that produced no side effects although the clinical benefits were not described.117 In contrast botulinum toxin injections for associated cervical dystonia have been associated with dysphagia.118 A double-bind randomised controlled trial119 of the antibiotics sulfamethoxazole and trimethoprim (co-trimoxazole) have not supported the improvements in spasticity and rigidity described by earlier smaller trials.120,121 Some people with SCA3 can show levadopa-responsive dystonia and therefore patients should undergo a levadopa trial if dystonia is present. SCAs involving Parkinsonian features, such as SCA2 and 3 (MJD), often respond to dopaminergic therapy, such as levodopa122–125 and dopaminergic drugs can also be helpful in ameliorating restless legs to aid uninterrupted sleep.125–127 Amantadine is sometimes used to treat dystonia and bradykinesia.125,128 Those experiencing muscle cramps, most commonly encountered in SCA3, can trial magnesium, chinine, quinine, or mexiletine drug therapies.129 As with other SCAs and cerebellar disorders the pharmacological management of ataxia is limited.115,130 Tandospirone may improve symptoms of ataxia, depression, and insomnia.116
Unravelling dystonic pain; a mixed methods survey to explore the language of dystonic pain and impact on life
Published in Disability and Rehabilitation, 2023
Amanda Amberg, Monique Crispin, Luis Koeppenkastrop, Imogene Munday, Alana B. McCambridge
Pain can be a major impairment for people living with dystonia, with some people experiencing no pain and others high levels of pain. In cervical dystonia, the most common presentation, 66% report they experience a lot of pain [5] and list it as their most prominent non-motor symptom [6]. Pain is also the greatest reported barrier to physical activity in dystonia [7]. Current pain management in dystonia is considered poor and usually consists of botulinum neurotoxin or pharmacological therapies [8]. A correlation between the severity of pain and quality of life has been demonstrated [9], yet the type of pain experienced by people with dystonia remains largely uncharted. The Toronto Western Spasmodic Torticollis Rating Scale (TWSTRS) is a common assessment tool for cervical dystonia which assesses pain severity and duration as well as disability due to pain [10], but not quality of pain. One study in people with cervical dystonia performed an analysis of pain descriptors using the Finnish Pain Questionnaire, a modified version of the McGill Pain Questionnaire (MPQ) [11,12]. The MPQ utilises common pain descriptors to describe quality and intensity of pain across four dimensions: sensory, affective, evaluative and miscellaneous [11]. Although the MPQ has not been validated for use in dystonia, it has been demonstrated to be sensitive, valid, and reliable in musculoskeletal conditions [13,14]. While the prevalence and intensity of pain in dystonia have been reported in the literature, very little is known about the language of dystonic pain and how the pain experience may vary between individuals.
Targeting pain in the long-term treatment of cervical dystonia with botulinum toxin A
Published in International Journal of Neuroscience, 2022
Michał Marciniec, Anna Szczepańska-Szerej, Ewa Papuć, Konrad Rejdak
Cervical dystonia (CD) is the most common form of focal dystonia characterized by involuntary cervical muscle contractions resulting in abnormal movements or postural alterations of the head, neck and shoulders [1]. Despite mainly motor manifestation of the disease, non-motor symptoms, such as pain, depression, anxiety and other social or emotional disturbances commonly affect the quality of life [2,3]. Cervical pain is one of the most disabling disease symptoms. High incidence of pain (from 54.6% even up to 88.9% of patients) distinguishes CD from other focal dystonias [4,5]. According to the recent research, prolonged muscle contraction is not the only cause of CD-related pain. Alterations of peripheral and central nervous system may cause abnormalities of transmission and processing of nociceptive stimuli and result in the occurrence of cervical pain [6].
Long-term efficacy and safety of botulinum toxin treatment for cervical dystonia: a critical reappraisal
Published in Expert Opinion on Drug Safety, 2021
Luca Marsili, Matteo Bologna, Joseph Jankovic, Carlo Colosimo
Botulinum neurotoxin (BoNT), administered via intramuscular injections in the target muscles, is the first–line treatment for cervical dystonia (CD) [1–3]. BoNT has multiple mechanisms of action, but exerts its effects primarily by inhibiting the release of acetylcholine from the nerve presynaptic terminal thus inducing a transient chemodenervation [4], although direct central effects via anterograde or retrograde transport in the dorsal and ventral horns of the spinal cord and other central nervous system areas have also been postulated [5–7]. BoNT effect lasts approximately 6–16 weeks, with a peak of action around 4 weeks after the injection, thus requiring repeated treatments [8–10]. To date, two serotypes of BoNT, BoNT type A (BoNT-A) and type B (BoNT-B), have been approved for CD [4] (Supplementary Table).