Down Syndrome

Muscular Dystrophy

Muscular dystrophy is a group of diseases that make muscles weaker and less flexible over time. It is caused by mutations in the genes that interfere with the production of proteins needed to form healthy muscle. For some people, the disease starts early in childhood. Others don’t have any symptoms until they are teenagers or middle-aged adults.

There are more than 30 different kinds of muscular dystrophy and each is different based on molecular defect (the genes that cause it).

Symptoms are variable of different type of muscular dystrophy. The main sign of muscular dystrophy is progressive muscle weakness. Specific signs and symptoms begin at different ages and in different muscle groups, depending on the type of muscular dystrophy. Few common muscular dystrophies are:
Duchenne type muscular dystrophy
This is the most common form of muscular dystrophy. It is common in boys, although girls can be carriers and few may be mildly affected. About one-third of boys with Duchenne muscular dystrophy (DMD) don’t have a family history of the disease, possibly because the gene involved may be subject to sudden abnormal change (spontaneous mutation).
Signs and symptoms typically appear in early childhood (starts between ages 3 and 5) and may include frequent falls, difficulty in rising from a sitting or lying position, waddling gait, walking on the toes, large calf muscles, muscle pain and stiffness
Becker muscular dystrophy
Signs and symptoms are similar to those of Duchenne muscular dystrophy, but tend to be milder and progress more slowly. Symptoms generally begin in the teens but may not occur until the mid-20s or even later.
Myotonic Dystrophy: This form is characterized by an inability to relax muscles at will following contractions. Facial and neck muscles are usually the first to be affected.

Facioscapulohumeral (FSHD) Dystrophy: Muscle weakness typically begins in the face and shoulders. Onset usually occurs in the teenage years but may begin in childhood or as late as age 40.

Congenital Muscular dystrophy :This type affects boys and girls and is apparent at birth or before age 2. Some forms progress slowly and cause only mild disability, while others progress rapidly and cause severe impairment.

Limb-girdle Muscular dystrophy : Hip and shoulder muscles are usually the first affected. People with this type of muscular dystrophy may have difficulty lifting the front part of the foot and as a result may trip frequently. Onset usually begins in childhood or the teenage years.

Distal muscular dystrophy : It affects the muscles of the arms, legs, hands, and feet. It usually comes on later in life, between ages 40 and 60