About MDs

MD STARnet is collecting data on a range of MDs. The data collection and research is starting with Duchenne and Becker muscular dystrophies. In October 2015, the North Carolina site will begin data collection on these two types of muscular dystrophy.

Duchenne Muscular Dystrophy +

Duchenne muscular dystrophy is the most common fatal genetic disorder diagnosed in childhood, affecting approximately 1 in every 5,000 school-aged males.

  • Because the Duchenne gene is found on the X-chromosome, it primarily affects boys; however, it can also affect girls, but this is very rare.
  • It occurs across all races and cultures. Duchenne may be slightly more common in Hispanic populations and slightly less common in African-American populations.
  • Duchenne causes progressive loss of strength that starts in early childhood. The progressive muscle weakness leads to trouble walking and typically people with Duchenne need to use a scooter and/or wheelchair in their teens. Later it leads people with Duchenne to have trouble using their arms. It also cases serious medical problems relating to the heart and lungs. Young men with Duchenne typically live into their late twenties to thirties.
  • Duchenne is caused by a mutation in the gene that encodes for a protein called dystrophin. Because dystrophin is absent, the muscle cells are easily damaged.
  • There is no cure. There is not yet an approved treatment, though use of corticosteroids may help slow down the progression of muscle weakness.

For more information about Myotonic dystrophy, visit the resources in the Links section.

Becker Muscular Dystrophy +

Becker muscular dystrophy is related to Duchenne muscular dystrophy (see above) because both disorders are caused by mutations in the dystrophin gene.

  • Becker is also located on the X-chromosome and also primarily affects males.
  • It is about 3 times less common than Duchenne.
  • People with Becker muscular dystrophy have less serious weakness than people with Duchenne, and the weakness typically starts later and progresses slower.

For more information about Myotonic dystrophy, visit the resources in the Links section.

Once the majority of data collection on Duchenne and Becker muscular dystrophy is complete, the MD STARnet sites will then begin to collect data on these disorders:

Myotonic Dystrophy +

Myotonic dystrophy is a complex genetic condition that affects various muscle groups in the body. Some features of the condition are:

  • there are two types (Myotonic dystrophy type 1, and Myotonic dystrophy type 2),
  • each type affects males and females, has various symptoms and degrees of severity, and is caused by a different change in a single gene
  • a common symptom in both types of Myotonic dystrophy is muscle weakness
  • there are treatment options available for individuals with Myotonic dystrophy, such as use of ankle-foot orthoses, wheelchair, or other assistive devices to help with muscle weakness; however, there is currently no cure for either type of Myotonic dystrophy
  • research is being conducted to identify a cure for Myotonic dystrophy and to learn more about the condition

For more information about Myotonic dystrophy, visit the resources in the Links section.

Congenital muscular dystrophies +

Congenital muscular dystrophies are a group of various genetic conditions which are characterized by muscle weakness in infancy. An infant is diagnosed with a congenital muscular dystrophy based upon:

  • the findings of a clinical evaluation
  • identification of characteristic symptoms of one of the conditions, such as decreased muscle tone/muscle weakness, delay or early stopping of gross motor development with joint/spinal rigidity
  • an evaluation of medical and family history
  • specialized tests, such as muscle biopsy and molecular genetic testing

Depending upon the type of congenital muscular dystrophy, a person may also have cardiac, respiratory, or central nervous system challenges, as they age. Currently there is no cure, for any type of congenital muscular dystrophies. However there are treatment options which are typically focused on symptom management, such as medications, surgery, and physical/occupational therapy.

For more information about congenital muscular dystrophies, visit the resources in the Links section.

Distal muscular dystrophy +

Distal muscular dystrophy is a group of various muscular dystrophies which begin with distal muscle weakness. The distal muscle are the muscle in the lower arms and legs, and in the hands and feet. Overtime muscle weakness occurs in non-distal muscles. However, these conditions are typically not considered life-threatening and do not impact an individual's learning ability. Distal muscular dystrophy affects both men and women, can occur at any age, and the symptoms, and severity vary. Treatment is symptom specific.

For more information about distal muscular dystrophy, visit the resources in the Links section.

Emery-Dreifuss muscular dystrophy (EDMD) +

Emery-Dreifuss muscular dystrophy (EDMD) is a rare muscle condition that is due to a change in one of three genes. Which gene is changed determines how the condition is passed on from generation to generation, and if both males and females are affected, or if only males are affected. EDMD affects the muscles of the heart and skeleton. Hence individuals with this condition have heart problems and difficulty with movement. Typically symptoms of EDMD appear during childhood and among the earliest symptoms are deformities of the joints. These deformities are called contractures and often impact the elbows, ankles, and neck. The age of onset of symptoms and their progression and severity varies among families and among family members. Treatment is focused on symptom management and can include physical therapy and surgery.

For more information about Emery-Dreifuss muscular dystrophy (EDMD), visit the resources in the Links section.

Facioscapulohumeral (FSHD) muscular dystrophy +

Facioscapulohumeral (FSHD) muscular dystrophy is a condition in which there is weakness over time in the muscles of the face (facio), back (scapula) and upper arms (humeral). Over time muscle weakness can occur in all of the skeletal muscles; however, the majority of individuals with FSHD do not have a decreased life expectancy. Although FSHD affects both men and women, men typically develop symptoms earlier. FSHD can occur at any age, and the symptoms and severity vary. Treatment is symptom specific, and can include physical therapy, management of muscle pain, and surgery.

For more information about facioscapulohumeral (FSHD) muscular dystrophy, visit the resources in the Links section.

Limb girdle muscular dystrophy +

Limb girdle muscular dystrophy is a group of various muscular dystrophies which involve muscle weakness and wasting of muscles in the arms and legs. The muscles most impacted are muscle in shoulders, upper arms, pelvic area and thighs. Some forms of limb girdle muscular dystrophy may also involve weakness of the heart muscle and muscles involved with breathing. Limb girdle muscular dystrophy affects both men and women, can occur at any age, and the symptoms, and severity vary. Treatment is symptom specific.

For more information about limb girdle muscular dystrophy, visit the resources in the Links section.

Oculopharyngeal muscular dystrophy (OPMD) +

Oculopharyngeal muscular dystrophy (OPMD) is a muscle condition that affects both males and females with the first symptoms typically occurring when an individual is between age 40 and 60. The most common symptoms are droopy eye lids and difficulty swallowing. As the condition progresses, individuals typically develop weakness of the muscles in their tongue and limbs. Which cause more difficulty with eating and limited ability to perform physical activities such as climbing stairs. Treatment options are symptom specific. Research to understand the full clinical spectrum of oculopharyngeal muscular dystrophy is ongoing.

For more information about oculopharyngeal muscular dystrophy, visit the resources in the Links section.