Myotonic Dystrophy Type 1 Management and Therapeutics.

Abstract:

OPINION STATEMENT:Myotonic dystrophy (DM1) is the most common form of adult muscular dystrophy. It is a multisystem disorder with a complex pathophysiology. Although inheritance is autosomal dominant, disease variability is attributed to anticipation, a maternal expansion bias, variable penetrance, somatic mosaicism, and a multitude of aberrant pre-mRNA splicing events. Patient presentations range from asymptomatic or mild late onset adult to severe congenital forms. Multiple organ systems may be affected. Patients may experience early cataracts, myotonia, muscle weakness/atrophy, fatigue, excessive daytime sleepiness, central/obstructive apnea, respiratory failure, cardiac arrhythmia, insulin resistance, dysphagia, GI dysmotility, cognitive impairment, Cluster C personality traits, and/or mood disorders. At present, there is no curative or disease-modifying treatment, although clinical treatment trials have become more promising. Management focuses on genetic counseling, preserving function and independence, preventing cardiopulmonary complications, and symptomatic treatment (e.g., pain, myotonia, hypersomnolence, etc.). Currently, there is an increasing international consensus on monitoring and treatment options for these patients which necessitates a multidisciplinary team to provide comprehensive, coordinated clinical care.

authors

Smith CA,Gutmann L

doi

10.1007/s11940-016-0434-1

subject

Has Abstract

pub_date

2016-12-01 00:00:00

pages

52

issue

12

eissn

1092-8480

issn

1534-3138

pii

10.1007/s11940-016-0434-1

journal_volume

18

pub_type

杂志文章,评审
  • Acute Hearing Loss.

    abstract::Acute hearing loss (AHL) is a medical urgency. The management of patients presenting with sudden deafness involves detecting the causal mechanism and administering emergency therapeutic drugs to restore hearing by minimizing the period of cellular ischemia to the inner ear. Acute management of AHL consists of administ...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-004-0039-y

    authors: Tamhankar M,Solomon D

    更新日期:2004-01-01 00:00:00

  • Neurologic Complications of Bone Marrow and Stem-cell Transplantation in Patients with Cancer.

    abstract::Transplantation of bone marrow or peripheral blood stem cells is increasingly being used to treat a variety of oncologic disorders. These procedures are associated with a large spectrum of neurologic complications that significantly contribute to patient morbidity and mortality. These complications may arise at any ti...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-007-0016-3

    authors: Mathew RM,Rosenfeld MR

    更新日期:2007-07-01 00:00:00

  • Infantile spasms: treatment challenges.

    abstract:OPINION STATEMENT:Infantile spasms (IS) represent a major therapeutic challenge, as cessation of spasms and normalization of the electroencephalogram (elimination of hypsarrhythmia) are mandatory to prevent cognitive deterioration in previously healthy infants, or to preserve neurocognitive function among those neurolo...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-012-0181-x

    authors: Watemberg N

    更新日期:2012-08-01 00:00:00

  • Overview of therapeutic hypothermia.

    abstract:OPINION STATEMENT:Therapeutic hypothermia has proven neuroprotective effects in global cerebral ischemia. Indications for hypothermia induction include cardiac arrest and neonatal asphyxia. The two general methods of induced hypothermia are either surface cooling or endovascular cooling. Hypothermia should be induced a...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-012-0201-x

    authors: Song SS,Lyden PD

    更新日期:2012-12-01 00:00:00

  • Obstructive sleep apnea in children.

    abstract::Despite increasing recognition of childhood obstructive sleep apnea syndrome (OSAS) as a significant public health problem, treatment of the condition remains inconsistent. Some children are screened using polysomnography and treated only when objective respiratory disturbances are identified. Many others receive aden...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-005-0028-9

    authors: Hoban TF

    更新日期:2005-09-01 00:00:00

  • Multiple Sclerosis: Immunotherapy.

    abstract::Given our current knowledge, there is a need for the early institution of immunomodulatory therapy, especially for patients with poor prognostic factors (motor and cerebellar symptoms, frequent disease exacerbations, and a high level of activity on magnetic resonance imaging ). Patients who progress despite immunomodu...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-999-0004-x

    authors: Bielekova B,Martin R

    更新日期:1999-07-01 00:00:00

  • Treatment of neurofibromatosis type 1.

    abstract:OPINION STATEMENT:Neurofibromatosis type 1 (NF1) is a genetic multisystemic disorder involving the skin, the central and peripheral nervous systems, bones, and the cardiovascular and endocrine systems. This condition is caused by inherited or de novo mutations of the NF1 gene at the 17q11.2 chromosomal region, a gene t...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-015-0355-4

    authors: Sabatini C,Milani D,Menni F,Tadini G,Esposito S

    更新日期:2015-06-01 00:00:00

  • Allodynia as a complication of migraine: background and management.

    abstract::Allodynia is a normal part of the untreated migraine attack in most people with episodic migraine and is prevalent in chronic migraine. The extent to which allo-dynia contributes to the pain and disability of migraine attacks is unclear, as is its clinical importance. The presence of allodynia correlates with the seve...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-009-0001-0

    authors: Young WB

    更新日期:2009-01-01 00:00:00

  • Cerebral Palsy.

    abstract::The neurorehabilitation program for cerebral palsy changes over time. During the first 2 years of life, an infant stimulation program with an emphasis on more than just improving motor deficits is emphasized. The importance of involvement of a knowledgeable therapist cannot be overemphasized. Realistic expectations mu...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-000-0011-4

    authors: Russman BS

    更新日期:2000-03-01 00:00:00

  • New-onset partial epilepsy in adults.

    abstract::Medical management, the mainstay of treatment for partial epilepsy, involves choosing from an array of antiseizure drugs, most of which have comparable efficacy against partial-onset seizures. Effective treatment strategies involve matching the characteristics of drug and patient to control seizures without adverse ef...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-009-0028-2

    authors: Liu L,Henry JC

    更新日期:2009-07-01 00:00:00

  • Selection of Warfarin or One of the New Oral Antithrombotic Agents for Long-Term Prevention of Stroke among Persons with Atrial Fibrillation.

    abstract:OPINION STATEMENT:Atrial fibrillation (AF) is the most common sustained cardiac rhythm disorder, which can potentially increases the risk of stroke by five-fold, thus, resulting in high public healthcare burden. Stroke prevention is vital in the management of AF patients. Vitamin K antagonists (VKA, eg, warfarin) have ...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-014-0331-4

    authors: Xiong Q,Lip GY

    更新日期:2015-02-01 00:00:00

  • Drug-induced parkinsonism.

    abstract::Drug-induced parkinsonism (DIP) is condition that mimics Parkinson's disease. Characterized mainly by rigidity and bradykinesia, it has less prominent tremor and gait instability. DIP is generally caused by lipophilic drugs that "block" dopamine D2 receptors in the brain, although presynaptic dopamine depletion, false...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-009-0019-3

    authors: Susatia F,Fernandez HH

    更新日期:2009-05-01 00:00:00

  • Orthostatic Hypotension in Multiple System Atrophy.

    abstract::There is no known way to cure multiple system atrophy or even to slow its insidious progression, but there are opportunities to treat many of its symptoms and complications. Of all the autonomic disturbances it causes, orthostatic hypotension is associated with one of the better chances for successful intervention. Mi...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-000-0005-2

    authors: Riley DE

    更新日期:2000-05-01 00:00:00

  • Antiphospholipid Antibody Syndrome.

    abstract::When the diagnosis of antiphospholipid antibody syndrome (aPS) is being considered in persons who have experienced an ischemic stroke or a transient ischemic attack, it is important to gauge how well the history and laboratory data fit with this diagnosis as opposed to other causes of infarct. The fewer the number of ...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-000-0043-9

    authors: Jacobs BS,Levine SR

    更新日期:2000-09-01 00:00:00

  • Meningiomas.

    abstract::Meningiomas are extra-axial brain tumors of middle-to-late adult life and show a predominance in women. Overall, 90% of meningiomas are benign, 6% atypical, and 2% are malignant. Most patients diagnosed with a meningioma decide to have it removed surgically, and are advised to do so based on their neurologic symptoms....

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-001-0025-6

    authors: Chamberlain MC

    更新日期:2001-01-01 00:00:00

  • Immunotherapeutics for autoimmune encephalopathies and dementias.

    abstract:OPINION STATEMENT:The timely implementation of immunotherapy is key to successful treatment of autoimmune encephalopathies or dementias (from here on will be referred to as autoimmune encephalopathies). There are different levels of diagnostic certainty which should guide the immunological treatment of autoimmune encep...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-013-0251-8

    authors: McKeon A

    更新日期:2013-12-01 00:00:00

  • Advances in treatment of obstructive sleep apnea syndrome.

    abstract::The treatments for obstructive sleep apnea (OSA) described in this paper represent the latest information and data. Nasal continuous positive airway pressure, initially described in 1981, remains the cornerstone of therapy. Advances in mask interfaces, the use of humidification, the downloading of usage information, t...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-009-0038-0

    authors: Collop NA

    更新日期:2009-09-01 00:00:00

  • Current and future treatments in progressive supranuclear palsy.

    abstract::Progressive supranuclear palsy (PSP) is an atypical parkinsonian disorder that, in spite of its growing recognition, is still underdiagnosed. For management, prognosis, and research, an accurate and early diagnosis is essential. PSP is a relentlessly progressive neurodegenerative disorder, clinically characterized by ...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-006-0012-z

    authors: van Balken I,Litvan I

    更新日期:2006-05-01 00:00:00

  • Early Diagnosis of Autism Spectrum Disorders.

    abstract::Autistic spectrum disorders (ASD) are an often-disabling continuum of disorders affecting two to four in 1000 children. These disorders have a core set of defining features including impaired verbal and nonverbal communication, impaired social interaction, and restricted or repetitive patterns of behavior. The cause o...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-996-0030-x

    authors: Pinto-Martin J,Levy SE

    更新日期:2004-09-01 00:00:00

  • Herpes Simplex Virus in Children.

    abstract::Herpes simplex virus (HSV) infections are ubiquitous. Children are infected with HSV resulting in totally asymptomatic acquisition to life-threatening disease. Therapy of HSV diseases of children can be considered according to severity and time of acquisition. Neonatal herpes simplex virus infections take one of three...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-002-0040-2

    authors: Whitley RJ

    更新日期:2002-05-01 00:00:00

  • Acute Disseminated Encephalomyelitis.

    abstract::There is no standard therapy for acute disseminated encephalomyelitis (ADEM), and treatments are based on the analogy of the pathogenesis of ADEM with that of multiple sclerosis (MS), namely an inflammatory perivenular demyelination. High-dose intravenous corticosteroids, such as methylprednisolone, at a dosage standa...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-001-0016-7

    authors: Tselis A

    更新日期:2001-11-01 00:00:00

  • Treatment Opportunities in Patients With Metabolic Myopathies.

    abstract::Metabolic myopathies are disorders affecting utilization of carbohydrates or fat in the skeletal muscle. Adult patients with metabolic myopathies typically present with exercise-induced pain, contractures or stiffness, fatigue, and myoglobinuria. Symptoms are related to energy failure. Purpose of review In this review...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章,评审

    doi:10.1007/s11940-017-0473-2

    authors: Ørngreen MC,Vissing J

    更新日期:2017-09-21 00:00:00

  • Spontaneous Arterial Dissection.

    abstract::There is no controlled study for the best treatment or management of cervico-cerebral artery dissection (CAD). Rationale initial empiric treatment in acute CAD to prevent secondary embolism is partial thromboplastin time (PTT)-guided anticoagulation by intravenous heparin followed by anticoagulation with warfarin. Car...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-001-0034-5

    authors: Brandt T,Caplan L

    更新日期:2001-09-01 00:00:00

  • Treatment Options in Intractable Restless Legs Syndrome/Willis-Ekbom Disease (RLS/WED).

    abstract:OPINION STATEMENT:Restless Legs Syndrome/Willis-Ekbom Disease (RLS/WED) is a common condition characterized by an irresistible urge to move the legs, concomitant with an unpleasant sensation in the lower limbs, which is typically relieved by movement. Symptoms occur predominantly at rest and prevail in the afternoon or...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-015-0390-1

    authors: Rinaldi F,Galbiati A,Marelli S,Ferini Strambi L,Zucconi M

    更新日期:2016-02-01 00:00:00

  • The Therapy of Lyme Neuroborreliosis.

    abstract::The challenge for the neurologist in the treatment of Lyme neuroborreliosis is not in the treatment per se, but in the diagnosis. Neurological manifestations of Lyme disease can present in many forms, and diagnostic techniques which detect the spirochete directly; the culture or polymerase chain reaction of the spiroc...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-005-0026-y

    authors: Pachner AR

    更新日期:2005-03-01 00:00:00

  • Subarachnoid Hemorrhage.

    abstract::All patients who present with subarachnoid hemorrhage should be admitted to the intensive care unit for close neurologic and cardiorespiratory monitoring. Neurosurgical consultation should be obtained if external ventricular drain placement, arteriography, or surgical planning are considered. Seizure prophylaxis, anti...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-999-0010-z

    authors: Flemming KD,Brown RD Jr,Wiebers DO

    更新日期:1999-05-01 00:00:00

  • Autoimmune neuromuscular disorders in childhood.

    abstract:OPINION STATEMENT:Autoimmune neuromuscular disorders in childhood include Guillain-Barré syndrome and its variants, chronic inflammatory demyelinating polyradiculoneuropathy (CIDP), juvenile myasthenia gravis (JMG), and juvenile dermatomyositis (JDM), along with other disorders rarely seen in childhood. In general, the...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-011-0146-5

    authors: McMillan HJ,Darras BT,Kang PB

    更新日期:2011-12-01 00:00:00

  • Secondary Causes of Myositis.

    abstract:Purpose of review:The purpose of this paper is to comprehensively evaluate secondary causes of inflammatory myopathies (myositis) and to review treatment options. Recent findings:This review highlights recent advancements in our understanding of known causes of myositis, including newer drugs that may cause myositis s...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章,评审

    doi:10.1007/s11940-020-00646-0

    authors: Berth SH,Lloyd TE

    更新日期:2020-01-01 00:00:00

  • SUNCT and SUNA: Recognition and Treatment.

    abstract:OPINION STATEMENT:The problem of short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing (SUNCT) and short-lasting unilateral neuralgiform headache attacks with cranial autonomic symptoms (SUNA) management remains unsolved. Despite a myriad of therapeutic trials, no convincingly e...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-012-0211-8

    authors: Pareja JA,Alvarez M,Montojo T

    更新日期:2013-02-01 00:00:00

  • Cysticercosis.

    abstract::Cysticercosis, the consequence of ingesting viable eggs of the porcine tapeworm Taenia solium, currently remains one of the most common human parasitic conditions worldwide. Although preventable by the proper disposal of human wastes, cysticercosis of the central nervous system (neurocysticercosis) accounts for a subs...

    journal_title:Current treatment options in neurology

    pub_type: 杂志文章

    doi:10.1007/s11940-000-0052-8

    authors: Bale JF Jr

    更新日期:2000-07-01 00:00:00