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Review Article
Mechanisms of Disease: Monogenic Mitochondrial Disorders
To function normally, human cells require energy in the form of ATP. In many cell types, ATP is primarily generated by mitochondria, which are also key players in other important cellular processes, such as adaptive thermogenesis, ion homeostasis, innate immune responses, production of reactive…
- March 22, 2012
- Koopman W.J.H., Willems P.H.G.M., Smeitink J.A.M.
- N Engl J Med 2012; 366:1132-1141
Rare monogenic disorders of mitochondria have shed light on mitochondrial function, and the development of therapeutic agents for these disorders may be applicable to more common sporadic diseases characterized by mitochondrial dysfunction.
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Images in Clinical Medicine
Kayser–Fleischer Rings in Wilson's Disease
Figure 1.
- March 22, 2012
- Schrag A. and Schott J.M.
- N Engl J Med 2012; 366:e18
- Free Full Text
An 18-year-old woman presented with color and temperature changes in her hands, as well as intermittent tremor of the hands for 3 years. She also reported involuntary right arm movements and difficulties with concentration.
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Case Records of the Massachusetts General Hospital
Case 7-2012 — A 79-Year-Old Man with Pain and Weakness in the Legs
Presentation of Case. Dr. Aida E. Kuri (Medicine): A 79-year-old man was admitted to this hospital because of pain and weakness in the legs. The patient had multiple medical problems but had been in his usual state of health until 6 days before admission, when progressive, generalized pain and…
- March 8, 2012
- David W.S., Chad D.A., Kambadakone A., Hedley-Whyte E.T.
- N Engl J Med 2012; 366:944-954
- CME
- Video
A 79-year-old man was admitted to the hospital because of pain and weakness in the legs. He had multiple chronic medical problems and took numerous medications, with no recent changes. Examination revealed leg weakness and decreased reflexes.
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Review Article
Current Concepts: Dysfunction of the Diaphragm
The diaphragm is the dome-shaped structure that separates the thoracic and abdominal cavities. It is the principal muscle of respiration, is innervated by the phrenic nerves that arise from the nerve roots at C3 through C5, and is primarily composed of fatigue-resistant slow-twitch type I and fast…
- March 8, 2012
- McCool F.D. and Tzelepis G.E.
- N Engl J Med 2012; 366:932-942
- CME
- Video
Dysfunction of one or both hemidiaphragms is an underdiagnosed cause of dyspnea. Weakness or paralysis may be seen during mechanical ventilation, after surgery or trauma, with metabolic or inflammatory disorders, and with myopathy, neuropathy, or diseases causing lung hyperinflation.
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Clinical Implications of Basic Research
Sense in Antisense Therapy for Spinal Muscular Atrophy
The defining feature of autosomal recessive spinal muscular atrophy is the dying back of motor neurons, which causes generalized paresis and, in the most severe and common form of this disorder (type 1), results in fatal respiratory failure. A direct corollary of this outcome is that correction of…
- February 23, 2012
- MacKenzie A.
- N Engl J Med 2012; 366:761-763
A signal feature of spinal muscular atrophy (SMA) is the dying back of motor neurons. This is caused by a loss-of-function mutation in SMN1. Administration of an oligonucleotide that modifies the processing of SMN2, a homologous gene, extends the life span in a mouse model of SMA.
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Review Article
Current Concepts: The Autosomal Recessive Cerebellar Ataxias
The autosomal recessive cerebellar ataxias are a group of little known and often neglected diseases that are best understood by following a practical, multidisciplinary approach that focuses on clinical rather than molecular considerations. This review focuses on the main forms in which cerebellar…
- February 16, 2012
- Anheim M., Tranchant C., Koenig M.
- N Engl J Med 2012; 366:636-646
- CME
- Video
Autosomal recessive cerebellar ataxia must be considered in any child or young adult with a progressive disorder of gait or balance or with hypotonia or excessive clumsiness. This review presents a practical approach to these neurodegenerative diseases.
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Case Records of the Massachusetts General Hospital
Case 4-2012 — A 37-Year-Old Man with Muscle Pain, Weakness, and Weight Loss
Presentation of Case. Dr. Ian J. Barbash (Medicine): A 37-year-old man was admitted to this hospital because of muscle pain and weakness. The patient had been well until the evening before admission, when mild diffuse myalgias developed. He awoke in the morning with diffuse muscle cramps and…
- February 9, 2012
- Rhee E.P., Scott J.A., Dighe A.S.
- N Engl J Med 2012; 366:553-560
- CME
A 37-year-old man was admitted to this hospital because of 12 hours of muscle pain and weakness, resulting in the inability to rise from bed. Brief episodes of similar symptoms had occurred during the past month. He reported blurred vision, gynecomastia, and weight loss.
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Case Records of the Massachusetts General Hospital
Case 39-2011 — A Woman in Her 90s with Unilateral Ptosis
Presentation of Case. Dr. Xuemei Cai (Medicine): A woman in her 90s was seen in the emergency department at this hospital because of ptosis of the left eyelid. The patient had been in her usual health until 4 days earlier when, on awakening, she was unable to open her left eye. She reported no…
- December 22, 2011
- Venna N., Gonzalez R.G., Zukerberg L.R.
- N Engl J Med 2011; 365:2413-2422
A woman in her 90s came to the ER because of acute unilateral ptosis. During the next 8 weeks, weakness of the neck, fatigue, choking, and difficulty breathing developed, progressing to respiratory failure and death. An autopsy was performed.
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Original Article
INF2 Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy
Charcot–Marie–Tooth disease refers to a heterogeneous group of inherited chronic peripheral motor and sensory neuropathies. Affected persons typically present with progressive distal-muscle weakness and atrophy, reduced tendon reflexes, and foot and hand deformities. Three…
- December 22, 2011
- Boyer O., Nevo F., Plaisier E., et al.
- N Engl J Med 2011; 365:2377-2388
The authors report that INF2 mutations are present in patients with focal segmental glomerulosclerosis (FSGS) associated with Charcot–Marie–Tooth neuropathy. The findings provide insight into mechanisms linking formin proteins to podocyte and Schwann-cell function.
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Clinical Implications of Basic Research
Microtubules, Axonal Transport, and Neuropathy
A physical dimension of a cell is seldom its Achilles' heel. Yet for the neurons that are affected in most kinds of peripheral neuropathy, it is the length of their axons that best accounts for their selective vulnerability. As shown in Figure 1, the axon is contiguous with its cell soma. The soma…
- December 15, 2011
- Holzbaur E.L.F. and Scherer S.S.
- N Engl J Med 2011; 365:2330-2332
Understanding the function of proteins rendered mutant in disease provides insight into the mechanism of disease. Recent studies implicate the axonal cytoskeleton in neuropathies.
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Case Records of the Massachusetts General Hospital
Case 38-2011 — A 34-Year-Old Man with Diarrhea and Weakness
Presentation of Case. Dr. Andrew Courtwright (Medicine): A 34-year-old man was admitted to this hospital because of diarrhea and weakness. Three days before admission, weakness developed in the patient's right hand, followed by increasing weakness in the left hand. During the next 2 days, weakness…
- December 15, 2011
- Ryan E.T., Cronin C.G., Branda J.A.
- N Engl J Med 2011; 365:2306-2316
- CME
A 34-year-old man was admitted to the hospital because of weakness, chronic diarrhea, and weight loss. Initial laboratory evaluation revealed a leukocytosis and hypokalemia. A diagnostic procedure was performed.
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Clinical Problem-Solving
A Bird's-Eye View of Fever
Foreword. In this Journal feature, information about a real patient is presented in stages (boldface type) to an expert clinician, who responds to the information, sharing his or her reasoning with the reader (regular type). The authors' commentary follows. Stage. A 78-year-old man presented to his…
- November 3, 2011
- Lee A.I., Koo S., Vaidya A., Katz J.T., Loscalzo J.
- N Engl J Med 2011; 365:1727-1732
A 78-year-old man presented with a 4-month history of worsening fatigue, weakness, and anorexia, with an unintentional weight loss of 11.4 kg. He reported fevers, chills, night sweats, dry mouth, nonproductive cough, dyspnea with minimal exertion, nausea, and postural light-headedness.
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Images in Clinical Medicine
Myotonia of the Tongue
Figure 1.
- October 13, 2011
- Wang Z.J. and Huang X.S.
- N Engl J Med 2011; 365:e32
- Free Full Text
- Video
A 27-year-old woman presented with a 1-year history of progressive weakness and grip myotonia in both hands. There was no family history of any similar condition and no personal history of cataracts. Physical examination revealed weakness of the muscles ...
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Clinical Problem-Solving
A Recurrent Problem
Foreword. In this Journal feature, information about a real patient is presented in stages (boldface type) to an expert clinician, who responds to the information, sharing his or her reasoning with the reader (regular type). The authors' commentary follows. Stage. A 50-year-old woman from Texas had…
- June 2, 2011
- Vikram H.R., Dhaliwal G., Saint S., Simpson C.B.
- N Engl J Med 2011; 364:2148-2154
- CME
- Video
A 50-year-old woman from Texas had nasal stuffiness, postnasal drip, myalgias, cough, and hoarseness in early winter. Six weeks later, her nonproductive cough and hoarseness persisted. She had no fever, chills, night sweats, pain, weight loss, nausea, vomiting, or rash.
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Original Article
Systemic Administration of PRO051 in Duchenne's Muscular Dystrophy
Duchenne's muscular dystrophy is an X-linked recessive muscle disorder, affecting 1 in 3500 newborn boys. Patients have severe, progressive muscle wasting, leading to early death. The disease is caused by mutations in the dystrophin gene (DMD),, leading to disruption of the open reading frame,…
- April 21, 2011
- Goemans N.M., Tulinius M., van den Akker J.T., et al.
- N Engl J Med 2011; 364:1513-1522
- Free Full Text
Local intramuscular administration of PRO051 in patients with Duchenne's muscular dystrophy was previously reported to induce exon-51 skipping during pre–messenger RNA splicing in the dystrophin gene. This phase 1–2a study assessed systemic administration of PRO051.
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Editorial
The Burden of Functional Recovery from ARDS
The acute respiratory distress syndrome (ARDS) is commonly a cause for admission to the intensive care unit (ICU) and for mechanical ventilation. Within the past decade, research has shown not only that the need for acute supportive care is extensive and protracted, but also that the arc of…
- April 7, 2011
- Hall J.B. and Kress J.P.
- N Engl J Med 2011; 364:1358-1359
The acute respiratory distress syndrome (ARDS) is commonly a cause for admission to the intensive care unit (ICU) and for mechanical ventilation. Within the past decade, research has shown not only that the need for acute supportive care is extensive and ...
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Original Article
Brief Report: A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy
Muscular dystrophies are genetic diseases characterized by weakness and progressive degeneration of skeletal muscle. The transmembrane protein dystroglycan, which is ultimately cleaved into an α and a β component, is a key link between the cytoskeleton and extracellular-matrix proteins that bear…
- March 10, 2011
- Hara Y., Balci-Hayta B., Yoshida-Moriguchi T., et al.
- N Engl J Med 2011; 364:939-946
- Free Full Text
A dystroglycan mutation was identified in a patient with limb-girdle muscular dystrophy and cognitive dysfunction. A mouse model with this mutation reproduced features of the disease phenotype. This work extends our knowledge of the causes of limb-girdle muscular dystrophy.
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Images in Clinical Medicine
Pseudoathetosis
Figure 1.
- November 4, 2010
- Lo Y.L. and See S.
- N Engl J Med 2010; 363:e29
- Free Full Text
- Video
An otherwise healthy 40-year-old man presented with a 3-week history of paresthesia and inability to control his hands. Physical examination revealed generalized areflexia, marked loss of position sense, loss of feeling in a glove-and-stocking ...
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Editorial
Autoimmunity in a Genetic Disease — A Cautionary Tale
The development of gene therapy that is based on recombinant adeno-associated virus (rAAV) has had a checkered history. Recently, it has been marked by a number of clinical successes, including partial restoration of retinal function in patients with Leber's congenital amaurosis, and of neurologic…
- October 7, 2010
- Moore M.J. and Flotte T.R.
- N Engl J Med 2010; 363:1473-1475
The development of gene therapy that is based on recombinant adeno-associated virus (rAAV) has had a checkered history. Recently, it has been marked by a number of clinical successes, including partial restoration of retinal function in patients with ...
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Original Article
Brief Report: Dystrophin Immunity in Duchenne's Muscular Dystrophy
Duchenne's muscular dystrophy is an X-linked, genetically inherited disease affecting 1 in 3500 newborn boys. The disease is manifested by progressive muscle weakness that is caused by mutations in the gene encoding dystrophin. Dystrophin is a large (427-kD) cytoskeletal protein. The dystrophin…
- October 7, 2010
- Mendell J.R., Campbell K., Rodino-Klapac L., et al.
- N Engl J Med 2010; 363:1429-1437
- Free Full Text
A functional dystrophin transgene was delivered to skeletal muscle in patients with Duchenne's muscular dystrophy, an X-linked disorder resulting in progressive muscle weakness. The results showed a potential for T-cell immunity to self and nonself dystrophin epitopes.
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Medical Meetings Pediatrics Conferences and Meetings

2012 Certifying Examinations of the American Board of Pediatrics

The general pediatrics examination will be held in various cities, Oct. 16-18. Registration for first-time applicants is ongoing through May 3. Registration for re-registrants is ongoing through May 24. The following subspecialty examinations will be held in various cities: "Hospice and Palliative Medicine" (Oct. 4); "Pediatric Transplant Hepatology" (Oct. 11); "Pediatric Cardiology" (Nov. 7); "Pediatric Pulmonology" (Nov. 8); "Medical Toxicology" (Nov. 12); and "Pediatric Critical Care Medicine" (Nov. 14). Registration for first-time applicants is ongoing through April 30. Registration for re-registrants is ongoing through June 15.

Contact the American Board of Pediatrics, 111 Silver Cedar Court, Chapel Hill, NC 27514-1513; or call (919) 929-0461; or fax (919) 918-7114 or (919) 929-9255; or see http://www.abp.org .

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Browse Neuromuscular Disease

Showing 1 to 20 of 267 Articles

Filter Results

Mechanisms of Disease: Monogenic Mitochondrial Disorders

Kayser–Fleischer Rings in Wilson's Disease

Case 7-2012 — A 79-Year-Old Man with Pain and Weakness in the Legs

Current Concepts: Dysfunction of the Diaphragm

Sense in Antisense Therapy for Spinal Muscular Atrophy

Current Concepts: The Autosomal Recessive Cerebellar Ataxias

Case 4-2012 — A 37-Year-Old Man with Muscle Pain, Weakness, and Weight Loss

Case 39-2011 — A Woman in Her 90s with Unilateral Ptosis

INF2 Mutations in Charcot–Marie–Tooth Disease with Glomerulopathy

Microtubules, Axonal Transport, and Neuropathy

Case 38-2011 — A 34-Year-Old Man with Diarrhea and Weakness

A Bird's-Eye View of Fever

Myotonia of the Tongue

A Recurrent Problem

Systemic Administration of PRO051 in Duchenne's Muscular Dystrophy

The Burden of Functional Recovery from ARDS

Brief Report: A Dystroglycan Mutation Associated with Limb-Girdle Muscular Dystrophy

Pseudoathetosis

Autoimmunity in a Genetic Disease — A Cautionary Tale

Brief Report: Dystrophin Immunity in Duchenne's Muscular Dystrophy

Medical Meetings Pediatrics Conferences and Meetings

2012 Certifying Examinations of the American Board of Pediatrics

Trends: Most Viewed (Last Week)