Forum for Science, Industry and Business

Sponsored by:     3M 
Search our Site:

 

Guideline Offers Direction in Genetic Testing for Certain Types of Muscular Dystrophy

15.10.2014

A new guideline from the American Academy of Neurology (AAN) and the American Association of Neuromuscular & Electrodiagnostic Medicine (AANEM) recommends guidance on how doctors should evaluate the full picture—from symptoms, family history and ethnicity to a physical exam and certain lab test results—in order to determine what genetic tests may best diagnose a person’s subtype of limb-girdle or distal muscular dystrophy.

The guideline is published in the October 14, 2014, print issue of Neurology®, the medical journal of the American Academy of Neurology. To develop the guideline, researchers reviewed all of the available studies on the disorders, which cause muscles to waste away. 

“These are rare muscle diseases that can be difficult to diagnose,” said guideline lead author Pushpa Narayanaswami, MD, of Harvard Medical School in Boston and a Fellow of the AAN and AANEM. “With an accurate diagnosis, unnecessary tests or treatments may be avoided. Knowing the specific subtype is important for getting the best possible care.” 

“Limb girdle” refers to the hip and shoulder areas, where the limbs attach to the body. Limb-girdle muscular dystrophy most affects muscles close to the center of the body, such as in the areas near the tops of the arms and legs. Distal muscular dystrophy most affects muscles farther away from the center of the body, such as muscles in the hands and feet. There are several known subtypes of limb-girdle muscular dystrophy and distal muscular dystrophy. Experts continue to discover new subtypes. 

Certain signs and symptoms and other information such as family history can help doctors determine a person’s subtype. “Looking at a range of clinical signs and symptoms—such as which muscles are weak and if there is muscle wasting or enlargement, winging out of the shoulder blades, early signs of contracted limbs, rigidity of the neck or back, or heart or lung involvement—can help doctors determine which genetic test to order,” said senior author Anthony A. Amato, MD, also of the Harvard Medical School and a Fellow of the AAN and AANEM. “This in turn can shorten the time to diagnosis and start of treatment while helping avoid more extensive and expensive testing.” 

While there is no cure for these disorders, complications can be managed. The guideline makes recommendations about treating and managing complications, which may include muscle symptoms, heart problems and breathing problems. 

“Before this publication, there were no care guidelines that covered both limb-girdle muscular dystrophy and distal MD and were based on the evidence,” said Julie Bolen, PhD, MPH, team lead, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention (CDC). “We hope that this guideline will fill that gap for both the people who live with these rare disorders and the health care professionals who treat them.” 

The guideline recommends that care for people with these disorders should be coordinated through treatment centers specializing in muscular dystrophy. People with these disorders should tell their doctors about any symptoms such as the heart beating too fast or skipping beats, shortness of breath and pain or difficulty in swallowing, as treatments may be available. People should also talk to their doctors about exercises that are safe. 

The development of the guideline was funded in part by a grant from the CDC. 

To learn more about muscular dystrophy, please visit AAN.com/guidelines

The guideline was endorsed by the American Academy of Physical Medicine and Rehabilitation, Child Neurology Society, Jain Foundation and Muscular Dystrophy Association. 

The American Academy of Neurology, an association of more than 28,000 neurologists and neuroscience professionals, is dedicated to promoting the highest quality patient-centered neurologic care. A neurologist is a doctor with specialized training in diagnosing, treating and managing disorders of the brain and nervous system such as Alzheimer’s disease, stroke, migraine, multiple sclerosis, brain injury, Parkinson’s disease and epilepsy. 

For more information about the American Academy of Neurology, visit http://www.aan.comor find us onFacebook, Twitter, Google+ and YouTube

The American Association of Neuromuscular & Electrodiagnostic Medicine is an association of nearly 5,000 neurologists, physical medicine and rehabilitation, and other health care professionals and is dedicated to improving the care of patients with neuromuscular diseases.  

For more information about the American Association of Neuromuscular & Electrodiagnostic Medicine, please visit http://www.aanem.org/Home.aspx or find us on Twitter and YouTube.

Rachel L. Seroka | American Academy of Neurology

More articles from Life Sciences:

nachricht Polarization of Br2 molecule in vanadium oxide cluster cavity and new alkane bromination
13.07.2020 | Kanazawa University

nachricht Researchers present concept for a new technique to study superheavy elements
13.07.2020 | Johannes Gutenberg-Universität Mainz

All articles from Life Sciences >>>

The most recent press releases about innovation >>>

Die letzten 5 Focus-News des innovations-reports im Überblick:

Im Focus: Electron cryo-microscopy: Using inexpensive technology to produce high-resolution images

Biochemists at Martin Luther University Halle-Wittenberg (MLU) have used a standard electron cryo-microscope to achieve surprisingly good images that are on par with those taken by far more sophisticated equipment. They have succeeded in determining the structure of ferritin almost at the atomic level. Their results were published in the journal "PLOS ONE".

Electron cryo-microscopy has become increasingly important in recent years, especially in shedding light on protein structures. The developers of the new...

Im Focus: The spin state story: Observation of the quantum spin liquid state in novel material

New insight into the spin behavior in an exotic state of matter puts us closer to next-generation spintronic devices

Aside from the deep understanding of the natural world that quantum physics theory offers, scientists worldwide are working tirelessly to bring forth a...

Im Focus: Excitation of robust materials

Kiel physics team observed extremely fast electronic changes in real time in a special material class

In physics, they are currently the subject of intensive research; in electronics, they could enable completely new functions. So-called topological materials...

Im Focus: Electrons in the fast lane

Solar cells based on perovskite compounds could soon make electricity generation from sunlight even more efficient and cheaper. The laboratory efficiency of these perovskite solar cells already exceeds that of the well-known silicon solar cells. An international team led by Stefan Weber from the Max Planck Institute for Polymer Research (MPI-P) in Mainz has found microscopic structures in perovskite crystals that can guide the charge transport in the solar cell. Clever alignment of these "electron highways" could make perovskite solar cells even more powerful.

Solar cells convert sunlight into electricity. During this process, the electrons of the material inside the cell absorb the energy of the light....

Im Focus: The lightest electromagnetic shielding material in the world

Empa researchers have succeeded in applying aerogels to microelectronics: Aerogels based on cellulose nanofibers can effectively shield electromagnetic radiation over a wide frequency range – and they are unrivalled in terms of weight.

Electric motors and electronic devices generate electromagnetic fields that sometimes have to be shielded in order not to affect neighboring electronic...

All Focus news of the innovation-report >>>

Anzeige

Anzeige

VideoLinks
Industry & Economy
Event News

Contact Tracing Apps against COVID-19: German National Academy Leopoldina hosts international virtual panel discussion

07.07.2020 | Event News

International conference QuApps shows status quo of quantum technology

02.07.2020 | Event News

Dresden Nexus Conference 2020: Same Time, Virtual Format, Registration Opened

19.05.2020 | Event News

 
Latest News

Black phosphorus-based van der Waals heterostructures for mid-infrared light-emission applications

13.07.2020 | Physics and Astronomy

Polarization of Br2 molecule in vanadium oxide cluster cavity and new alkane bromination

13.07.2020 | Life Sciences

Researchers present concept for a new technique to study superheavy elements

13.07.2020 | Life Sciences

VideoLinks
Science & Research
Overview of more VideoLinks >>>