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, the current treatment options, including exercise therapy, dietary treatment, pharmacological supplementation, gene transcription, and enzyme replacement therapy, are described. Recent findings Recognition of the metabolic block in the metabolic myopathies has started the development of new therapeutic options. Enzyme replacement therapy with rGAA has revolutionized treatment of early onset Pompe disease. Supplements of riboflavin, carnitine, and sucrose show promise in patients with respectively riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency, primary carnitine deficiency, and McArdle disease. Treatment with citric acid cycle intermediates supply by triheptanoin seems promising in patients with glucogenoses, and studies are ongoing in patients with McArdle disease. Summary Treatment of metabolic myopathies primarily relies on avoiding precipitating factors and dietary supplements that bypass the metabolic block. Only a few of the used supplements are validated, and further studies are needed to define efficacious treatments. Further potential treatment targets are molecular therapies aimed at enzyme correction, such as chaperone therapy, gene therapy, gene expression therapy, and enzyme replacement therapies.
journal_name
Curr Treat Options Neuroljournal_title
Current treatment options in neurologyauthors
Ørngreen MC,Vissing Jdoi
10.1007/s11940-017-0473-2subject
Has Abstractpub_date
2017-09-21 00:00:00pages
37issue
11eissn
1092-8480issn
1534-3138pii
10.1007/s11940-017-0473-2journal_volume
19pub_type
杂志文章,评审abstract::The treatment of complex partial seizure (CPS) begins with accurate diagnosis. Episodes of staring and unresponsiveness due to nonepileptic causes must be ruled out. Absence seizures (typical and atypical petit mal) must be considered because the treatment strategy and prognosis for these seizures are very different f...
journal_title:Current treatment options in neurology
pub_type: 杂志文章
doi:10.1007/s11940-999-0023-7
更新日期:1999-09-01 00:00:00
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
更新日期:1999-07-01 00:00:00
abstract::Standard therapy does not exist for the treatment of primary central nervous system lymphoma. This is because of low patient numbers, slow accrual to clinical trials, and the absence of phase III randomized clinical trials. Neuro-oncologists agree that whole brain irradiation alone is no longer the best treatment opti...
journal_title:Current treatment options in neurology
pub_type: 杂志文章
doi:10.1007/s11940-003-0012-1
更新日期:2003-05-01 00:00:00
abstract::Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease that usually results in death secondary to respiratory failure. The psychological reaction to the diagnosis of ALS in patient and caregiver has received increasing attention. Reports are highly variable as to the severity of depressive symptoms ...
journal_title:Current treatment options in neurology
pub_type: 杂志文章
doi:10.1007/s11940-006-0030-x
更新日期:2006-09-01 00:00:00
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
更新日期:2009-01-01 00:00:00
abstract::Cervicocranial arterial dissection (CCAD) occurs when there is a tear in the intimal layer of the carotid or vertebral arteries with subsequent extravasation of blood into the subintimal layers. The dissection may be extradural, intradural, or extend over both segments. The contents of the subintimal layers are highly...
journal_title:Current treatment options in neurology
pub_type: 杂志文章
doi:10.1007/s11940-007-0031-4
更新日期:2007-01-01 00:00:00
abstract:PURPOSE OF REVIEW:Sleep-related movement disorders (SRMD) include several different motor activities during sleep. Few of them are well known and well classified, whereas others are minor motor disorders of sleep which are neither thoroughly characterized and classified nor have been extensively investigated to clarify...
journal_title:Current treatment options in neurology
pub_type: 杂志文章,评审
doi:10.1007/s11940-019-0543-8
更新日期:2019-01-19 00:00:00
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
更新日期:2012-08-01 00:00:00
abstract:PURPOSE OF REVIEW:Children surviving the pediatric intensive care unit (PICU) with neurologic illness or injury have long-term morbidities in physical, cognitive, emotional, and social functioning termed postintensive care syndrome (PICS). In this article, we review acute and longitudinal management strategies availabl...
journal_title:Current treatment options in neurology
pub_type: 杂志文章,评审
doi:10.1007/s11940-019-0586-x
更新日期:2019-09-27 00:00:00
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
更新日期:2009-05-01 00:00:00
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
更新日期:2002-05-01 00:00:00
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
更新日期:2011-12-01 00:00:00
abstract:OPINION STATEMENT:Kleine-Levin Syndrome [KLS] is often under-recognized and also misdiagnosed. When suspicion for KLS is raised, a thorough clinical evaluation should be performed, including detailed history from family members and a neurologic and psychiatric examination. Additional studies may include PSG, EEG, neuro...
journal_title:Current treatment options in neurology
pub_type: 杂志文章,评审
doi:10.1007/s11940-016-0409-2
更新日期:2016-06-01 00:00:00
abstract::The treatment of progressive myoclonus epilepsy (PME) remains a major therapeutic challenge in neurology. Generalized convulsive seizures are often well controlled through classic antiepileptic drugs (AEDs) like valproate and clonazepam, whereas myoclonus, the main symptom that is affecting patients most in their dail...
journal_title:Current treatment options in neurology
pub_type: 杂志文章
doi:10.1007/s11940-002-0001-9
更新日期:2002-01-01 00:00:00
abstract::Dystonia is a neurologic disorder that can occur at any age and often results in significant disability. The therapeutic application of botulinum toxin has revolutionized the treatment of this disorder, particularly for the adult-onset focal forms such as cervical dystonia and blepharospasm. The two available commerci...
journal_title:Current treatment options in neurology
pub_type: 杂志文章
doi:10.1007/BF02938412
更新日期:2007-05-01 00:00:00
abstract::Patients with functional or nonorganic visual disturbances are often seen in general ophthalmology practice and then referred to neurology and/or neuro-ophthalmology. The diagnosis of functional vision loss requires comprehensive examinations and diagnostic testing to eliminate possible organic entities. Inconsistenci...
journal_title:Current treatment options in neurology
pub_type: 杂志文章
doi:10.1007/s11940-996-0023-9
更新日期:2006-01-01 00:00:00
abstract:OPINION STATEMENT:Use of cannabinoids as medications has a long history. Unfortunately, the prohibition of cannabis and its classification in 1970 as a schedule 1 drug has been a major obstacle in studying these agents in a systematic, controlled manner. The number of class 1 studies (randomized, double-blind, placebo-...
journal_title:Current treatment options in neurology
pub_type: 杂志文章
doi:10.1007/s11940-015-0370-5
更新日期:2015-09-01 00:00:00
abstract:OPINION STATEMENT:High-grade or malignant gliomas are aggressive cancers. The World Health Organization (WHO) grading system recognizes grade III and grade IV primary brain tumors of astrocytic, oligodendroglial, or mixed lineage. Identification of these tumors is prompted by symptoms such as insidious headaches, seizu...
journal_title:Current treatment options in neurology
pub_type: 杂志文章
doi:10.1007/s11940-010-0077-6
更新日期:2010-07-01 00:00:00
abstract:OPINION STATEMENT:The diagnosis and appropriate treatment of hyperkinetic movement disorders require a work up of potentially reversible metabolic, infectious and structural disorders as well as side effects of current medication. In pharmacoresistant movement disorders with a disabling impact on quality of life, deep ...
journal_title:Current treatment options in neurology
pub_type: 杂志文章
doi:10.1007/s11940-015-0373-2
更新日期:2015-09-01 00:00:00
abstract::The mainstay of treatment of amyotrophic lateral sclerosis (ALS) is management of symptoms. Health care providers involved in the care of ALS patients should be armed with the most current knowledge about symptomatic management of these patients so that an aggressive approach to controlling symptoms can be undertaken ...
journal_title:Current treatment options in neurology
pub_type: 杂志文章
doi:10.1007/s11940-008-0009-x
更新日期:2008-03-01 00:00:00
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
更新日期:2001-09-01 00:00:00
abstract::Vision disturbances following traumatic brain injury (TBI) include anomalies of accommodation, version, vergence (nonstrabismic, as well as strabismic), photosensitivity, visual field integrity, and ocular health. Traumatic brain injury patients with complex diplopia patterns, noncomitant strabismic anomalies, and adv...
journal_title:Current treatment options in neurology
pub_type: 杂志文章
doi:10.1007/s11940-002-0027-z
更新日期:2002-07-01 00:00:00
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
更新日期:2009-07-01 00:00:00
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
更新日期:2015-02-01 00:00:00
abstract::Neuromyelitis optica (NMO, Devic's syndrome) is characterized by concurrence of optic neuritis and transverse myelitis, typically associated with a lesion in the spinal cord extending over three or more vertebral segments. It is an inflammatory, demyelinating central nervous system disorder, and although it is most co...
journal_title:Current treatment options in neurology
pub_type: 杂志文章
doi:10.1007/s11940-008-0007-z
更新日期:2008-01-01 00:00:00
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
更新日期:2006-05-01 00:00:00
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
更新日期:2020-01-01 00:00:00
abstract::Subdural empyema represents loculated infection between the outermost layer of the meninges, the dura, and the arachnoid. The empyema may develop intracranially or in the spinal canal. Intracranial subdural empyema is most frequently a complication of sinusitis or, less frequently, otitis or neurosurgical procedures. ...
journal_title:Current treatment options in neurology
pub_type: 杂志文章
doi:10.1007/s11940-003-0019-7
更新日期:2003-01-01 00:00:00
abstract::Neuromyelitis optica (Devic's syndrome) is an uncommon, idiopathic, demyelinating syndrome of the central nervous system that preferentially affects the optic nerves and spinal cord. It frequently is misdiagnosed as severe multiple sclerosis, but usually is readily distinguished from multiple sclerosis in fully develo...
journal_title:Current treatment options in neurology
pub_type: 杂志文章
doi:10.1007/s11940-005-0010-6
更新日期:2005-05-01 00:00:00
abstract:OPINION STATEMENT:CLIPPERS for chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids, is a steroid-sensitive and steroid-dependent brainstem inflammatory disease of unknown origin. Since its first description in 2010, about 60 cases have been reported throughout the world. The me...
journal_title:Current treatment options in neurology
pub_type: 杂志文章,评审
doi:10.1007/s11940-017-0455-4
更新日期:2017-05-01 00:00:00