Emery-Dreifuss muscular dystrophy.

Abstract:

:Emery-Dreifuss muscular dystrophy (EDMD) is the third most common X-linked muscular dystrophy. This disorder is characterized by childhood onset of early contractures, humeroperoneal muscle atrophy, and cardiac conduction abnormalities. Weakness is slowly progressive, but there is a broad spectrum of clinical severity. Patients and carriers are at risk of sudden death. Regular cardiac evaluation is mandatory to assess the risk of cardiac arrhythmias. Unique atrial pathology is seen at autopsy. The mutated gene in EDMD is localized to the long arm of the X chromosome. Mutations in the gene lead to abolished synthesis of the gene product, emerin. Emerin is localized to the nuclear membrane of skeletal, cardiac, and smooth muscle. The term Emery-Dreifuss syndrome describes patients who have the EDMD phenotype without X-linked inheritance. There is no treatment for the underlying disease, but early placement of pacemakers may be lifesaving.

journal_name

Semin Neurol

journal_title

Seminars in neurology

authors

Zacharias AS,Wagener ME,Warren ST,Hopkins LC

doi

10.1055/s-2008-1040827

subject

Has Abstract

pub_date

1999-01-01 00:00:00

pages

67-79

issue

1

eissn

0271-8235

issn

1098-9021

journal_volume

19

pub_type

杂志文章,评审
  • Pearls: myelopathy.

    abstract::Both general neurologists and neurologists with a broad spectrum of subspecialty interests are often asked to evaluate patients with disorders of the spinal cord. Over the past decade, there have been significant advances in our understanding of a wide spectrum of immune-mediated, infectious, metabolic, hereditary, pa...

    journal_title:Seminars in neurology

    pub_type: 杂志文章

    doi:10.1055/s-0029-1244993

    authors: Kumar N

    更新日期:2010-02-01 00:00:00

  • Poststroke upper limb recovery.

    abstract::Upper limb recovery after a stroke is suboptimal. Only a few individuals achieve full functional use of the hemiparetic arm. Complex primary and secondary impairments may affect recovery of upper limb function in stroke survivors. In addition, multiple personal, social, behavioral, economic, and environmental factors ...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0034-1396002

    authors: Tsu AP,Abrams GM,Byl NN

    更新日期:2014-11-01 00:00:00

  • Neuroimaging of hemorrhage and vascular malformations.

    abstract::Nontraumatic spontaneous intracranial hemorrhage occurs most commonly into the subarachnoid space and brain parenchyma, in contrast to subdural and epidural hematomas that are usually traumatic. The differential diagnosis of nontraumatic subarachnoid hemorrhage includes intracranial aneurysm rupture and vascular malfo...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0028-1083691

    authors: Dainer HM,Smirniotopoulos JG

    更新日期:2008-09-01 00:00:00

  • Charcot-Marie-Tooth neuropathies: diagnosis and management.

    abstract::Charcot-Marie-Tooth (CMT) disease is caused by mutations in several genes expressed in myelinating Schwann cells and the axons they ensheathe. Typical patients present with distally accentuated motor weakness, muscle wasting, and sensory loss leading to significant and progressive clinical morbidity and impaired quali...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1062264

    authors: Jani-Acsadi A,Krajewski K,Shy ME

    更新日期:2008-04-01 00:00:00

  • Pulmonary function screening.

    abstract::Patients who suffer from neuromuscular diseases often have complications from respiratory insufficiencies. Some neuromuscular diseases, for example Landry Guillain-Barré syndrome, may only require temporary tracheal intubation; patients with other neuromuscular diseases, such as amyotrophic lateral sclerosis, may deci...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2003-40756

    authors: Gelinas DF

    更新日期:2003-03-01 00:00:00

  • Myasthenia gravis: diagnosis.

    abstract::The clinical history and neurological examination provide the most important data on which the diagnosis of autoimmune myasthenia gravis (MG) is based. MG produces symptomatic weakness that predominates in certain muscle groups and typically fluctuates in response to effort and rest. The diagnosis of MG therefore depe...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2004-829594

    authors: Meriggioli MN,Sanders DB

    更新日期:2004-03-01 00:00:00

  • Functional Networks in Disorders of Consciousness.

    abstract::Severe brain injury may cause disruption of neural networks that sustain arousal and awareness, the two essential components of consciousness. Despite the potentially devastating immediate and long-term consequences, disorders of consciousness (DoC) are poorly understood in terms of their underlying neurobiology, the ...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0037-1607310

    authors: Bodien YG,Chatelle C,Edlow BL

    更新日期:2017-10-01 00:00:00

  • Neurological disorders in pregnancy from a neuroimaging perspective.

    abstract::Pregnancy can precipitate new neurological diseases as a result of the alterations in physiology that accompany the pregnant state. The pregnant patient presenting with neurological problems poses both diagnostic and therapeutic challenges, often forcing the clinician to rely on neuroimaging as part of the workup. Thi...

    journal_title:Seminars in neurology

    pub_type: 杂志文章

    doi:10.1055/s-2007-991123

    authors: Brass SD,Copen WA

    更新日期:2007-11-01 00:00:00

  • Freud and consciousness: the first one hundred years of neuropsychodynamics in theory and clinical practice.

    abstract::Psychoanalysis emerged out of Freud's neuropsychologic studies of consciousness and cognition. This article describes the historical development of neuropsychodynamic theories of consciousness and personality, and traces their application to several neuropsychiatric syndromes of intense contemporary clinical interest....

    journal_title:Seminars in neurology

    pub_type: 传,历史文章,杂志文章

    doi:10.1055/s-2008-1040927

    authors: Miller L

    更新日期:1997-06-01 00:00:00

  • Clinical anatomy and imaging of the cranial nerves and skull base.

    abstract::Evaluation of patients with cranial neuropathies requires an understanding of brainstem anatomy and nerve pathways. Advances in neuroimaging, particularly high spatial resolution magnetic resonance imaging (MRI), have enabled visualization of these tiny structures and their related pathology. This review provides an a...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0032-1331807

    authors: Jha RM,Klein JP

    更新日期:2012-09-01 00:00:00

  • Chronic insomnia.

    abstract::Chronic insomnia afflicts millions of people in the United States. It is associated with decreased quality of life, accidents, several comorbid conditions, increased morbidity, and substantial direct and indirect costs. Chronic insomnia is a multifactorial and individualized disorder. Its etiology may be cognitive or ...

    journal_title:Seminars in neurology

    pub_type: 杂志文章

    doi:10.1055/s-0029-1237125

    authors: Neubauer DN,Flaherty KN

    更新日期:2009-09-01 00:00:00

  • Lyme neuroborreliosis in the rhesus monkey.

    abstract::Although there are several animal models of Lyme disease, only the rhesus monkey model exhibits all of the key manifestations of the disease. After infection with Borrelia burgdorferi, rhesus monkeys develop signs of early localized, early disseminated, and chronic Lyme disease. Specific features include erythema migr...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1040913

    authors: England JD,Bohm RP Jr,Roberts ED,Philipp MT

    更新日期:1997-03-01 00:00:00

  • Cell transplantation for the treatment of Parkinson's disease.

    abstract::Cell transplantation is an experimental therapy for Parkinson's disease (PD) and other movement disorders. Several open-label research trials have shown clinically meaningful improvement in parkinsonian signs and symptoms after striatal transplantation of allogeneic fetal ventral mesencephalic (FVM) tissue. However, e...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2001-13125

    authors: Subramanian T

    更新日期:2001-01-01 00:00:00

  • Prognosis: the adult with a learning disability.

    abstract::Deficiencies in reading and writing appear to be major and lasting handicaps for learning-disabled college students. However, gains have been made in program modifications for learning-disabled students in many higher education institutions. Many adults with learning disabilities find that their handicap makes it diff...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1041207

    authors: Gottesman RL

    更新日期:1991-03-01 00:00:00

  • Benign Paroxysmal Positional Vertigo: What We Do and Do Not Know.

    abstract::Benign paroxysmal positional vertigo (BPPV) is common, sometimes terrifying, but rarely portends serious disease. It is usually easily diagnosed and treated, and both the patient and the physician are immediately gratified. While much has been learned about the pathogenesis of BPPV in the past decades, many of its fea...

    journal_title:Seminars in neurology

    pub_type: 杂志文章

    doi:10.1055/s-0039-3402733

    authors: Nuti D,Zee DS,Mandalà M

    更新日期:2020-02-01 00:00:00

  • Early postpartum headache: case discussions.

    abstract::Headaches are a common complaint for most women during their lifetime, including gestation and puerperium. Tension-type headaches and migraine flare-ups are the most common headache complications after delivery, but the differential diagnosis of postpartum headache is broad. The clinician must distinguish common heada...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0031-1293537

    authors: Cardona L,Klein AM

    更新日期:2011-09-01 00:00:00

  • Men Are from Mars, Idiopathic Intracranial Hypertension Is from Venous: The Role of Venous Sinus Stenosis and Stenting in Idiopathic Intracranial Hypertension.

    abstract::Idiopathic intracranial hypertension (IIH), also known as pseudotumor cerebri, is a disease primarily affecting obese women of child-bearing age, typically presenting with positional headaches, diplopia from abducens nerve palsies, pulse-synchronous tinnitus, and visual disturbances related to papilledema, including t...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0039-3399506

    authors: Dinkin M,Oliveira C

    更新日期:2019-12-01 00:00:00

  • History of the extensor plantar response: Babinski and Chaddock signs.

    abstract::The testing of reflexes involving the lower extremities is a pivotal part of the modern neurological examination. The normal response to noxious stimulation of the foot is plantar flexion of the toes, causing them to curl downward toward the undersurface of the foot. In 1896, Joseph Babinski described an extensor toe ...

    journal_title:Seminars in neurology

    pub_type: 传,历史文章,杂志文章

    doi:10.1055/s-2002-36761

    authors: Goetz CG

    更新日期:2002-12-01 00:00:00

  • Nonsurgical management of increased intracranial pressure.

    abstract::CPP reflects perfusion problems related to increased ICP or inadequate MAP. CPP is a most helpful and practical management tool. The relationship of CBF and CPP depends on cerebral vascular resistance (flow equals pressure divided by resistance). At present, we do not have a practical method to measure vascular resist...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1041328

    authors: Stone JL

    更新日期:1989-09-01 00:00:00

  • Botulinum Toxin Therapy for Parkinson's Disease.

    abstract::Botulinum toxin (BoNT) therapy is frequently employed in the treatment of Parkinson's disease (PD) symptoms. It can effectively ameliorate the symptoms of cervical dystonia, blepharospasm, sialorrhea, and hyperactive bladder. It is increasingly being used for additional PD-related indications including limb dystonia, ...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0037-1602246

    authors: Wagle Shukla A,Malaty IA

    更新日期:2017-04-01 00:00:00

  • Myasthenia gravis: diagnostic mimics.

    abstract::The clinical hallmark of myasthenia gravis (MG) is fluctuating, painless weakness of muscles that most often affect extraocular, lower bulbar, or limb musculature. Predicting the probability of successful treatment for the patient assumes that the physician has made an accurate diagnosis. In this review, the practical...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2004-830903

    authors: Engstrom JW

    更新日期:2004-06-01 00:00:00

  • Organic delusional syndrome.

    abstract::Delusions may be the most prominent manifestations of brain dysfunction, and a host of medical and neurologic conditions can present with or produce delusions. Recognition of the underlying disorder frequently aids in successful treatment. Comparison of organic delusional syndromes with schizophrenia suggests that lim...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1041273

    authors: Gorman DG,Cummings JL

    更新日期:1990-09-01 00:00:00

  • Neurology and the Global HIV Epidemic.

    abstract::The vast majority of people living with human immunodeficiency virus (HIV) infection reside in resource-limited settings. As compared with resource-rich settings, there are important differences in the epidemiology and outcomes of HIV infection in resource-limited settings. Nonetheless, little HIV neurology research o...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0034-1372344

    authors: Meyer AC

    更新日期:2014-02-01 00:00:00

  • Spasticity and intrathecal baclofen.

    abstract::Severe spastic tone and/or spastic hypertonia can be the most disabling consequences of a neurologic insult, resulting from an excess of muscle tone. Baclofen, a GABA-B agonist, is one of the most widely used drugs in treating abnormal or disabling spastic tone. However, the effectiveness of baclofen taken orally is o...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0034-1396012

    authors: Furr-Stimming E,Boyle AM,Schiess MC

    更新日期:2014-11-01 00:00:00

  • Natalizumab therapy for multiple sclerosis.

    abstract::Natalizumab is a monoclonal therapeutic antibody that inhibits migration of lymphocytes into the central nervous system (CNS) by blocking integrins. Several clinical trials have shown an excellent efficacy in the treatment of relapsing remitting multiple sclerosis. This efficacy is also underlined by postmarketing dat...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0033-1343793

    authors: Derfuss T,Kuhle J,Lindberg R,Kappos L

    更新日期:2013-02-01 00:00:00

  • Imaging findings in cancer therapy-associated neurotoxicity.

    abstract::Cancer therapy can cause several neurotoxic syndromes that are associated with distinct findings on cranial imaging. With the use of more aggressive and combined treatment modalities in oncology and prolonged overall patient survival, neurotoxicity has been reported with increasing frequency in patients with brain can...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0032-1331817

    authors: Arrillaga-Romany IC,Dietrich J

    更新日期:2012-09-01 00:00:00

  • Epilepsy in the elderly.

    abstract::There are many unique characteristics in elderly patients with epilepsy. The incidence of seizure in this age group is the highest of any age group and continues to increase as people live longer. Etiology of seizures is different than for adults and includes cerebrovascular disease, dementia, closed head injury, and ...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2008-1079338

    authors: Jetter GM,Cavazos JE

    更新日期:2008-07-01 00:00:00

  • Alzheimer's disease and its focal variants.

    abstract::Alzheimer's disease (AD) is the most common form of dementia in elderly individuals. Although the diagnosis of AD requires pathological confirmation, several common clinical features of AD have been identified. These include insidious onset, gradual progression, medial temporal atrophy, temporoparietal hypoperfusion, ...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-2000-13177

    authors: Kramer JH,Miller BL

    更新日期:2000-01-01 00:00:00

  • Neuroimaging in Cardiac Arrest Prognostication.

    abstract::Neuroimaging is commonly utilized in the evaluation of post-cardiac arrest patients, providing a unique ability to visualize and quantify structural brain injury that can complement clinical and electrophysiologic data. Despite its lack of validation, we would advocate that neuroimaging is a valuable prognostication t...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0036-1594253

    authors: Greer DM,Wu O

    更新日期:2017-02-01 00:00:00

  • Parkinsonism.

    abstract::Parkinsonism is a clinical syndrome, which is characterized by bradykinesia, rigidity, rest tremor, and postural instability. Idiopathic Parkinson disease (PD) is the most common cause of this syndrome, though there are several other important etiologies that must be considered. These include the atypical Parkinsonian...

    journal_title:Seminars in neurology

    pub_type: 杂志文章,评审

    doi:10.1055/s-0036-1585097

    authors: Keener AM,Bordelon YM

    更新日期:2016-08-01 00:00:00