Myopathy Congenital

Congenital myopathy refers to a type of degenerative muscular disorder caused by genetic abnormalities the infant inherits from his or her parents. Although congenital myopathies can be extremely debilitating, advancements in technology have allowed medical professionals to recommend suitable treatments that typically increase these patients’ quality of life.

While congenital myopathies are present in patients from birth, they may not be detected until the child starts walking and physically developing. In general, however, doctors diagnose congenital myopathy in patients before they hit their later teen years.

In this section, we will take a closer look at the symptoms of and treatments for various types of congenital myopathies. Our articles will highlight some of the newest treatment options, along with the pros and cons associated with each.

Types of Congenital Myopathies

The exact way in which congenital myopathy will affect a patient will depend on the precise condition he has. The following lists the five most common types of congenital myopathy, including the unique symptoms of each:

  • Central core myopathy describes a condition in which patients experience muscle weakness, especially in the abdomen region. Because this condition doesn’t get progressively worse as other types of congenital myopathy do, these patients tend to have normal life spans.
  • Congenital fiber type disproportion refers to a disease marked by skeletal deformities, as well as facial and upper body muscle weakness. Most of these patients get better, although retain the disease, as they age.
  • Multicore myopathy, like central core myopathy, is characterized by muscle weakness in the center of the body, namely in the abdominal region. The progression and prognosis for this type of myopathy varies from patient to patient.
  • Myotubular myopathy causes skeletal and muscle weakness that affects patients’ abilities to swallow, breathe and make facial expressions. As with multicore myopathy, the progression and prognosis of this disease varies.
  • Nemaline myopathy has different symptoms depending on how severe a patient’s condition is. For example, while a mild case can affect a person’s ability to use their face and feet muscles, severe cases of nemaline myopathy can result in respiratory failure.

Symptoms of Congenital Myopathies

As with other types of myopathy, the symptoms of congenital myopathies will vary depending on:

  • a patient’s age
  • a patient’s family and personal medical history
  • the presence of other health conditions
  • the type and severity of the congenital myopathy.

However, those suffering from a congenital myopathy will likely experience any combination of the following symptoms:

  • difficulty chewing, swallowing, talking and/or walking
  • inability to relax muscles once they have been contracted
  • loss of coordination
  • muscle spasms
  • muscle weakness
  • overdeveloped muscles
  • rigidity
  • slowed reflexes
  • stiffness.

If you have a family history of congenital myopathy, be sure you understand and are aware of congenital myopathy symptoms.

Congenital Myopathy Treatments

Because no cure currently exists for any type of myopathy, treatments for congenital myopathies revolve around decreasing the condition’s symptoms and improving the patient’s quality of life. Any combination of the following is suitable treatment for congenital myopathy patients:

  • practicing physical therapy to enhance flexibility and prevent cramps, spasms and rigidity
  • taking anticonvulsant medications (drugs that decrease muscle spasms)
  • taking anti-inflammatory medications (drugs that reduce muscles, bone and skin swelling)
  • using supportive devices, such as canes, walkers and wheelchairs, to improve patient mobility
  • wearing supportive gear, such as braces, to improve mobility.

If you currently suffer from congenital myopathy, talk to your doctor about the most appropriate combination of congenital myopathy treatments for you.

Resources

Mayo Clinic (n.d.) Congenital Myopathies. Retrieved January 3, 2008, from the Mayo Clinic Web site: http://www.mayoclinic.org/congenital-myopathies/.

Merck (updated November 2005). Congenital Myopathies. Retrieved January 3, 2008, from the Merck Web site: http://www.merck.com/mmpe/sec19/ch295/ch295c.html.