Muscle dystrophies are a group of inherited diseases that cause progressive muscle weakness and degeneration.

They are caused by mutations in genes responsible for muscle structure and function, which results in the break down and eventual death of muscle tissue. There are several types of muscle dystrophies, with Duchenne and Becker muscular dystrophies being the most common.

Duchenne Muscular Dystrophy (DMD)

Duchenne muscular dystrophy is the most common type of muscular dystrophy. It primarily affects boys and is caused by a mutation in the DMD gene, which provides instructions to produce the protein dystrophin.

Dystrophin helps muscles to maintain their structure and function.

Early symptoms of DMD can include:.

Frequent falling
Difficulty getting up from a lying or sitting position
Problems running and jumping
Strong calf muscles
Waddling gait
Difficulty climbing stairs

Becker Muscular Dystrophy (BMD)

Becker muscular dystrophy is similar to DMD, but the symptoms are milder and the disease progresses more slowly.

It is caused by mutations in the DMD gene, but these mutations do not completely disrupt the production of dystrophin, allowing some functional protein to be made.

Early symptoms of BMD can include:.

Frequent falling
Difficulty getting up from a lying or sitting position
Problems running and jumping
Calf muscles that are enlarged and firm, but not as large as in DMD
Waddling gait
Difficulty climbing stairs

Limb-Girdle Muscular Dystrophy (LGMD)

Limb-girdle muscular dystrophy refers to a group of conditions that affect the muscles of the hips and shoulders, leading to weakness and wasting.

LGMD can be caused by mutations in several different genes, and the symptoms and progression of the disease can vary depending on the specific type of LGMD.

Early symptoms of LGMD can include:.

Difficulty getting up from a sitting or lying position
Weakened shoulder muscles
Difficulty lifting objects above the head
Problems reaching behind the back
Weakness in the hips and legs
Difficulty climbing stairs or rising from a chair
Foot drop

Facioscapulohumeral Muscular Dystrophy (FSHD)

Facioscapulohumeral muscular dystrophy is named for the muscles that are primarily affected – those of the face, shoulders, and upper arms.

It is caused by a genetic mutation on chromosome 4, and the inheritance pattern is autosomal dominant, meaning that only one copy of the mutated gene is necessary for the disease to develop.

Early symptoms of FSHD can include:.

Facial weakness or asymmetry (one side droops more than the other)
Weakness in the shoulders and upper arms
Difficulty raising the arms overhead

Emery-Dreifuss Muscular Dystrophy (EDMD)

Emery-Dreifuss muscular dystrophy is a rare type of muscular dystrophy that is caused by mutations in several different genes, including the EMD gene on the X chromosome.

The symptoms of EDMD typically begin in childhood or adolescence, and can include:.

Pain and stiffness in the muscles of the neck and spine
Weakened biceps and triceps muscles
Difficulty lifting the arms above the head
Weakness in the legs and feet
Contractures (abnormal shortening) of the joints, particularly in the elbows, ankles, and neck

Myotonic Muscular Dystrophy

Myotonic muscular dystrophy is characterized by myotonia, which is a prolonged contraction of skeletal muscles that makes it difficult for the muscles to relax.

Myotonic muscular dystrophy can also lead to weakness and wasting in the muscles, as well as problems with the heart, eyes, and other organs.

Early symptoms of myotonic muscular dystrophy can include:.

Difficulty releasing a grip
Difficulty relaxing muscles after contraction
Weakness in the hands, feet, or face
Speech difficulties
Difficulty swallowing
Vision problems
Cardiac arrhythmias

Conclusion

Recognizing the early symptoms of muscle dystrophies is important for receiving an early diagnosis and appropriate treatment.

If you or a loved one is experiencing any of the symptoms discussed in this article, please consult a health care provider for further evaluation and testing.