Muscular Dystrophy is the general term for nine kinds of genetic disorders causing degeneration of the skeletal muscles of the human body. Our bodies require and manufacture specific proteins to support muscle development (like “food” for the muscles). In muscular Dystrophy, an error in genetic information causes the body to manufacture those proteins improperly, or not at all. This causes the muscles to slowly deteriorate. Sometimes this deterioration becomes evident very early in life, and other times it doesn’t appear until well into adulthood.
A common form of muscular dystrophy which appears in childhood is called Duchenne Muscular Dystrophy (DMD). Since Duchenne (also known as pseudohypertrophic) is an X-linked condition, it is passed from mother to son and typically is only seen in males. It is caused by faulty production of dystrophin, a protein which keeps muscle cells intact. Between the ages of two and six years old, the boy suddenly shows signs of gross motor difficulty. For example, the child might stumble or have difficultly climbing stairs. Weakness will typically present in the hips, shoulders, arms, and legs. The child’s calves may be enlarged. Usually prior to these muscular difficulties, the child has appeared normal in every way. Duchenne MD can progress to where it involves the heart, which is also a muscle. Children with this disorder may eventually develop feeding problems, require respiratory care, and often don’t live beyond the age of thirty. Becker Muscular Dystrophy is a less serious form of the disease, where symptoms don’t often present until adolescence, and progression is slower.
Some other forms of muscular dystrophy include:
- Emery-Dreifuss Muscular Dystrophy (EDMD)
- Limb-Girdle Muscular Dystrophy (LGMD)
- Facioscapulohumeral Muscular Dystrophy (FSH or FSHD)
- Myotonic Muscular Dystrophy (MMD)
- Oculopharyngeal Muscular Dystrophy (OPMD)
- Distal Muscular Dystrophy (DD) (Miyoshi)
- Congenital Muscular Dystrophy (CMD)
Each form of MD has a different prognosis, presents at different times, and may affect particular muscle groups more than others. Unfortunately, there is no cure for Muscular Dystrophy, and treatment is likely to focus on symptom management. Physical therapy can help maintain strength and flexibility.
Children with Muscular Dystrophy are eligible for special education, according to the Individuals with Disabilities Education Improvement Act of 2004 (IDEA).
If you are concerned about your child’s gross motor abilities (large muscle groups), contact your pediatrician and get an evaluation. If your child is diagnosed with MD, groundbreaking research is underway and hope is on the horizon.
For more information, visit the Muscular Dystrophy Association website.
Kristyn Crow is the author of this blog. Visit her website by clicking here.