Diagnosis and Genetics

A look at symptoms, diagnosis, treatments and current MDA-supported research into this complex autoimmune disorder

posted on June 15, 2015 - 1:01pm
In recognition of June being National Myasthenia Gravis Awareness Month, MDA is examining the disease from several perspectives. This article offers an overview of signs, symptoms, diagnosis and treatments for myasthenia gravis (MG), as well as information on drugs that people with MG should avoid.
posted on December 1, 2000 - 11:38am
As scientists continue to link inheritable diseases to specific genes, genetic tests are becoming a standard tool in the diagnosis of neuromuscular diseases. Many are available on a fee-for-service basis from commercial or university labs, and others are available (sometimes free of charge) from research laboratories studying certain diseases.
posted on October 1, 2000 - 11:10am
Diagnosis of neuromuscular disease hinges on a doctor's ability to identify a specific defect of neuromuscular function. Sometimes, a doctor can infer this functional defect — and the disease associated with it — by giving a physical exam, doing a blood test or looking at the anatomy of nerves and muscles. But other times, the doctor may have to directly evaluate the functions of nerves and...
posted on August 1, 2000 - 10:59am
A muscle biopsy is a surgical procedure in which one or more small pieces of muscle tissue are removed for further microscopic or biochemical examination. The procedure, often used in the diagnosis of a neuromuscular disorder, is considered "minor" surgery and is usually performed under local anesthetic.
posted on April 1, 2000 - 12:30pm
Pam Rhatigan remembers the day in 1981 when she and her husband, Brian, finished their genetic counseling sessions at the University of Arizona's medical center. They'd gone to discuss the chances that a baby they might conceive could be born with spinal muscular atrophy, a genetic disorder of muscle-controlling nerve cells that Pam was born with in 1953. There was no family history and little...
posted on February 1, 2000 - 1:53pm
Almost everyone with a neuromuscular disorder has had, or will have, a creatine kinase test. But what exactly is creatine kinase (CK), and why are its levels measured in neuromuscular diseases? CK, also known as phosphocreatine kinase, or CPK, is a type of protein called an enzyme. It catalyzes, or "encourages," a biochemical reaction to occur. The normal function of CK in our cells is to add a...

When their baby was born with overwhelming special needs, these parents became experts in nemaline myopathy

posted on January 31, 2000 - 5:00pm
Like many first-time parents, Doug and Tina Kurtz of Dayton, Ohio, immersed themselves in books on parenting in preparation for their new arrival. But when their son, Brent, was born with a rare muscle disorder, the Kurtzes found themselves abruptly plunged into a world where none of their parenting books could help.

When DMD carriers have trouble of their own

posted on December 1, 1998 - 4:37pm
The reasoning is sound: A female has two X chromosomes to a male's one, so she has a built-in "backup" if anything should go wrong on either of her two Xs. She can be a "carrier" of an X-linked disease, because she can give a flawed X chromosome to her sons, who, having only one X, will likely develop an X-linked disorder. DMD is one of many X-linked diseases, such as two kinds of hemophilia...