Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0013421 (dystonia)
 8,418 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We report a patient with Shy-Drager syndrome who developed multiple tense blisters mainly on the extremities. Circulating anti-basement membrane zone autoantibodies were detected by the indirect immunofluorescence method. Immunoblot analysis using normal human epidermal extracts demonstrated that this patient's serum reacted only with 230 kD bullous pemphigoid antigen (BPAG1). Concerning the pathoetiology of the association of bullous pemphigoid and Shy-Drager syndrome, we discuss a sequence similarity between BPAG1 and dystonin, a candidate gene for dystonia musculorum.
J Dermatol 1998 Jul
PMID:Bullous pemphigoid associated with Shy-Drager syndrome. 971 81

Botulinum toxin injections have become a popular treatment for minimizing or eliminating facial wrinkles. After injection, the toxin acts to paralyze or weaken facial mimetic muscles. Two antigenically distinct serotypes, botulinum toxin type A (BTX-A) and botulinum toxin type B (BTX-B), are currently available. BTX-A is a lyophilized powder preparation requiring reconstitution; BTX-B is a ready-to-use liquid formulation. Both agents produce the same resultant clinical effect (i.e., muscle weakening). However, in addition to differences with respect to formulation, they are pharmacologically distinct in terms of molecular size, cellular mechanism of action, and species sensitivity. BTX-A has been used for aesthetic purposes for more than 10 years. Clinical studies and observations have shown that it is an effective agent for treating hyperkinetic facial lines. BTX-B was approved for use in cervical dystonia in 2000, but it has been used off-label to treat facial wrinkles as reported in several open-label studies. These preliminary dose-ranging studies have demonstrated that BTX-B is also effective. Both agents are extremely safe nonsurgical modalities for hyperkinetic facial lines. This article reviews the pharmacology and molecular features of BTX-A and BTX-B and highlights some of the key clinical studies that have been published to date with these two agents.
Dermatol Surg 2003 Apr
PMID:Comparison of botulinum toxins A and B in the aesthetic treatment of facial rhytides. 1265 10

Crow's feet develop with age and are one of the earliest signs of the normal aging process. Botulinum toxin type A, approved by the Food and Drug Administration for the treatment of glabellar wrinkles in April 2002, has been used off-label to treat facial wrinkles since 1981. Botulinum toxin type B (BTX-B, Myobloc) was Food and Drug Administration-approved for use in cervical dystonia in the United States in December 2000 and has subsequently been used in an off-label indication to treat facial wrinkles. There are sparse data in the literature evaluating the safety and efficacy of BTX-B for the treatment of facial wrinkles. In this pilot study, participants with moderate or severe crow's feet wrinkles were treated with Myobloc versus placebo. The duration of correction and side effect profile are reported.
Dermatol Surg 2003 May
PMID:A double-blinded, randomized, placebo-controlled pilot study of the safety and efficacy of Myobloc (botulinum toxin type B)-purified neurotoxin complex for the treatment of crow's feet: a double-blinded, placebo-controlled trial. 1275 19

A new serotype of botulinum toxin has recently arrived in the US. Botulinum toxin type B (BTX-B), known as Myobloc in the United States and as Neurobloc in Europe, is one of seven different antigenic members of the botulinum toxin family, five of which the human nervous system is susceptible to. Like botulinum toxin type A (BTX-A), BTX-B has been used for a myriad of both dermatologic and nondermatologic problems since its recent approval by the FDA for the treatment of cervical dystonia in December 2000. It is currently not approved however, for a cosmetic use but has been used for this purpose in an "off-label" fashion. It has followed in the therapeutic footsteps of BTX-A in the prevention and treatment of facial wrinkles such as crow's feet and glabellar frown lines. In addition, one of its current and popular uses is in the management of hyperhidrosis, a disease in search of a long needed treatment. This past year researchers have been investigating the efficacy as well as defining the dosing and application regiments of BTX-B in the treatment of hyperhidrosis. In addition, recent studies have been examining its side effect profile, which may be very different than that seen with BTX-A. There are only a handful of studies in the literature examining the cosmetic applications of BTX-B. This chapter will review what is currently known about BTX-B and its current use in regards to the treatment of hyperhidrosis.
Clin Dermatol
PMID:Botulinum toxin-B and the management of hyperhidrosis. 1515 47

Since the introduction of botulinum toxin (BTX) as a therapeutic tool in the 1970s, the number of uses for this substance has increased exponentially. BTX's mechanism of action involves degrading the SNARE proteins blockading the release of acetylcholine into the neuromuscular junction. In many body systems, decrease of contractility, strength, and tension of certain muscle groups result in improved clinical outcomes. Applications now include cosmetic, gastroenterologic, otolaryngologic, genitourinary, neurologic, and dermatologic uses. In fact, BTX can be considered as a potential treatment in any situation involving inappropriate or exaggerated muscle contraction. Currently, the FDA has approved BTX-A (Botox) for treating glabellar lines, blepharospasm, strabismus, hemifacial spasm, cervical dystonia, and spasticity. With the addition of cosmetic applications to the FDA's approval list, the use of BTX has increased dramatically.
Clin Dermatol
PMID:Noncosmetic uses of botulinum toxin. 1515 50

Botulinum toxin A (BoNT/A), a neurotoxin, is effective for treating a variety of disorders of involuntary muscle contraction, including cervical dystonia, blepharospasm and hemifacial spasm. It inhibits neurouscular signaling by blocking the release of acetylcholine at the neuromuscular junction. The biological effects of the toxin are transient with normal neuronal signaling returning within approximately 3-6 months post injection. Recently, clinical findings suggest that BoNT/A may inhibit pain associated with migraine and other headache types. The mechanism by which this toxin inhibits pain is under investigation, recent findings suggest that it inhibits the release of neurotransmitters from nociceptive nerve terminals and in this way may exert an analgesic effect. A number of retrospective open-label chart reviews and three placebo-controlled double-blind trials have demonstrated that localized injections of BTX-A significantly reduce migraine frequency, severity, and migraine-associated disability. The majority of patients in these studies experienced no BoNT/A mediated side effects; however, a small percentage of patients did report transient minor side effects including blepharoptosis, dipolpia, and injection-site weakness. Currently there are several large-scale randomized, placebo-controlled clinical trials in progress evaluating the efficacy, optimal dosing and side effect profile of this toxin as a novel treatment for migraine and other headache types. These studies may provide further evidence that BoNT/A is an effective option for the preventive treatment of migraine.
Clin Dermatol
PMID:Botulinum neurotoxin for the treatment of migraine and other primary headache disorders. 1515 49

Myobloc is the currently available commercial formulation of type B botulinum toxin. Released in the United States in 2000, it is approved by the Food and Drug Administration for the treatment of cervical dystonia. The most commonly used botulinum toxins, the type A toxins (Botox and Dysport), affect the SNAP-25 protein, whereas the type B toxin (Myobloc) affects vesicle-associated membrane protein, also known as synaptobrevin. Both type B and type A are antigenically distinct. This article explains the difference between Myobloc and type A toxins, reviews equivalency and other published studies, and describes practical uses for this product in facial aesthetics.
Dermatol Clin 2004 Apr
PMID:Myobloc. 1522 81

Dyschromatosis symmetrica hereditaria (DSH) is a pigmentary genodermatosis of autosomal dominant inheritance caused by a mutation of adenosine deaminase acting on the RNA 1 gene (ADAR1). It is characterized by a mixture of hyper- and hypopigmented macules on the back of the hands and feet. The pathomechanism by which the ADAR1 gene mutation induces DSH has not been clarified yet. We experienced an 11-year-old male DSH patient associated with dystonia, mental deterioration and brain calcification, who had a mutation of p.G1007R in the ADAR1 gene. This mutation had already been reported in a patient with similar neurological symptoms by Tojo et al. Additionally, a patient with DSH associated with torsion dystonia was reported by Patrizi et al., but gene analysis was not carried out. Only three cases with neurological disorders have been reported, although more than 50 mutations of the ADAR1 gene causing DSH have been reported and none of them had any neurological symptoms. Therefore, we suggest that neurological disorders rarely develop in DSH.
J Dermatol 2008 Oct
PMID:Dyschromatosis symmetrica hereditaria associated with neurological disorders. 1901 46

Dyschromatosis symmetrica hereditaria (DSH) is a rare pigmentary genodermatosis, which is acquired by autosomal dominant inheritance with high penetrance. Most cases of this condition have been reported from East Asian countries, including Japan, China and Taiwan. Its symptoms are mixed hyper- and hypopigmented macules on the dorsal aspect of the hands and feet and freckle-like macules on the face. The gene responsible for DSH has been identified as adenosine deaminase acting on RNA1 (ADAR1). The ADAR1 protein catalyzes the transformation of adenosine to inosine in dsRNA substrates (so-called A-to-I editing) and is involved in various activities, such as viral inactivation, structural change of the protein and the resultant cell survival. However, its function in the skin and role in the development of DSH are still unknown. To date, more than 100 mutations of ADAR1 have been reported in patients with DSH, and the catalytic domain deaminase is believed to be crucial to the activities of this gene. Some complications of DSH have been reported and, intriguingly, several patients have been reported to develop neurological symptoms, such as dystonia and mental deterioration. Because ADAR1 plays various important roles in human tissue, we believe that a clarification of the pathogenesis of DSH will promote the understanding of the physiological functions of ADAR1, which will have significant scientific implications.
J Dermatol 2013 May
PMID:Dyschromatosis symmetrica hereditaria. 2297 14

Neurodegeneration with brain iron accumulation (NBIA) is the term applied to a heterogeneous group of disorders resulting in iron deposition in the basal ganglia. Well-known phenotypic features are progressive regression with extra pyramidal involvement and a variable course. A 10-year-old child born to consanguineous parents presented with progressive generalized opisthotonic dystonia, retrocollis, oromandibular dyskinesias, apraxia for swallowing, optic atrophy and severe self-mutilation of lips. MR imaging showed brain iron accumulation. Other causes of self-mutilation were excluded. Early infantile onset, ophisthotonic dystonia with oromandibular dyskinesias and characteristic MR images are suggestive of NBIA. There is only one case reported in the literature of self-mutilation in this condition.
Indian J Dermatol
PMID:Self-Mutilation in Neurodegeneration with Brain Iron Accumulation. 2612 Jan 59


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