Prompt administration of biotin and thiamine early in the disease course results in partial or complete improvement within days in the childhood and adult presentations, but most with the infantile presentation have had poor outcome even after supplementation [ncbi.nlm.nih.gov]

Clinical presentation and management of antibody-induced failure of botulinum toxin therapy. Mov Disord 2004;19:Suppl 8:S92-S100 5. Horn S, Comella CL. Treatment of dystonia. In: Jankovic JJ, Tolosa E, eds. [nejm.org]

Early and marked benefit with GPi DBS for lubag syndrome presenting with rapidly progressive life-threatening dystonia. Mov Disord. (2009) 24:1710–2. doi: 10.1002/mds.22656 PubMed Abstract | CrossRef Full Text | Google Scholar 55. [frontiersin.org]

• Poor Feeding

  An early-infantile Leigh-like syndrome / atypical infantile spasms presentation occurs in the first three months of life with poor feeding, vomiting, acute encephalopathy, and severe lactic acidosis. [ncbi.nlm.nih.gov]

• Failure to Thrive

  Trichothiodystrophy 8, nonphotosensitive MedGen UID: 1794267 •Concept ID: C5562057 • Disease or Syndrome Nonphotosensitive trichothiodystrophy-8 (TTD8) is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly [ncbi.nlm.nih.gov]

• Diplopia

  An adult-onset Wernicke-like encephalopathy presentation is characterized by acute onset of status epilepticus, ataxia, nystagmus, diplopia, and ophthalmoplegia in the second decade of life. [ncbi.nlm.nih.gov]

• Brittle Hair

  Trichothiodystrophy 8, nonphotosensitive MedGen UID: 1794267 •Concept ID: C5562057 • Disease or Syndrome Nonphotosensitive trichothiodystrophy-8 (TTD8) is characterized by brittle hair and nails and scaly skin, accompanied by failure to thrive, microcephaly [ncbi.nlm.nih.gov]

• Compulsive Disorder

  Additional findings can include eye movement abnormalities, skin changes, psychiatric comorbidities (attention-deficit/hyperactivity disorder, anxiety, depression, and obsessive-compulsive disorder), myoclonus, seizures, spasticity, and sensorineural [ncbi.nlm.nih.gov]

  It results in early onset myoclonus dystonia usually presenting in childhood with upper body myoclonus and dystonia frequently with writer's cramp, cervical dystonia, and associated psychiatric problems including anxiety and obsessive compulsive disorder [frontiersin.org]

• Loss of Speech

  Manifestations include dystonia and muscle spasms, dysphagia, dysarthria, and eventually loss of speech and ambulation. Brain MRI shows predominantly striatal abnormalities. The disease is potentially associated with a fatal outcome. [ncbi.nlm.nih.gov]

• Clonus

  Dystonia and cogwheel rigidity are nearly always present; hyperreflexia, ankle clonus, and Babinski responses are common. Hemiparesis or quadriparesis may be seen. Episodes are often triggered by febrile illness or mild trauma or stress. [ncbi.nlm.nih.gov]

Mission The Dystonia Coalition’s mission is to advance the pace of clinical and translational research in the dystonias to find better treatments and a cure. [consortiapedia.fastercures.org]

Dystonia Treatments Treatments for dystonia are aimed at decreasing spasms, pain, and disturbed postures. Botulinum Toxin (Botox, Dysport, Myobloc, Xeomin) for Dystonia Chemical denervation using Botox is a common treatment for dystonia. [barrowneuro.org]

We compared this surgical treatment with sham stimulation in a randomized, controlled clinical trial. [nejm.org]

Patients with dystonia, enrolled in Protocol 85-N-0195, "Efficacy and Pathophysiology of Botulinum Toxin for Treatment of Involuntary Movement Disorders' will also be eligible for participation in the study. [clinicaltrials.gov]

He has lectured on TMJ dysfunction, its treatment, and its connection to the various movement disorders. He has lectured over the United States and internationally on the Modern Advances in TMJ Treatment. Because of Dr. [absimsdds.com]

PMID: 15711431 Prognosis Ren H, Wen R, Wang W, Li D, Wang M, Gao Y, Xu Y, Wu Y Neurosurg Rev 2022 Feb;45(1):673-682. Epub 2021 Jun 29 doi: 10.1007/s10143-021-01584-4. [ncbi.nlm.nih.gov]

Within these limitations, patterns of response between different monogenic dystonias may assist in patient selection for DBS and determining treatment prognosis, particularly if additional factors such as body distribution, disease duration or the presence [frontiersin.org]

Etiology Neurosurg Rev 2022 Feb;45(1):673-682. Epub 2021 Jun 29 doi: 10.1007/s10143-021-01584-4. PMID: 34185189 Lyons MK, Birch BD, Hillman RA, Boucher OK, Evidente VG Neurosurg Focus 2010 Aug;29(2):E5. doi: 10.3171/2010.4.FOCUS1067. [ncbi.nlm.nih.gov]

Conversely idiopathic isolated craniofacial and laryngeal dystonia may show a poorer than expected response to DBS (21), emphasizing the importance of not only etiology but also body distribution on DBS dystonia outcome. [frontiersin.org]

Patients with dystonia, enrolled in Protocol 85-N-0195, "Efficacy and Pathophysiology of Botulinum Toxin for Treatment of Involuntary Movement Disorders' will also be eligible for participation in the study. [clinicaltrials.gov]

Novel mutations in KMT2B offer pathophysiological insights into childhood-onset progressive dystonia. J Hum Genet. (2019) 64:803–13. doi: 10.1038/s10038-019-0625-1 PubMed Abstract | CrossRef Full Text | Google Scholar 116. [frontiersin.org]