DESCRIPTION
Neuromuscular disorders are conditions caused by impaired neuronal activity which affects control of voluntary muscle activities. Children’s with neuromuscular disorders often experience muscle pain or weakness, muscle twitching, cramping, numbness and tingling, muscle stiffness causing joint deformities and sometimes difficulty in swallowing and breathing. Neuromuscular disorders may be present at the time of birth or may develop at later stages in life.
ABNORMALITIES
Cerebral Palsy
Cerebral palsy may appear in infancy or early childhood and affects body movements, balance, posture, and muscle coordination. It is the result of damage to one or more of the parts of the brain that control muscle movements. Babies with cerebral palsy may experience delays in reaching development stages.
Treatment options include physical therapy, occupational therapy, use of specialized equipment, and medications to reduce spastic movements and prevent seizures. In some cases surgery to cut select nerves from the spinal cord may be necessary.
Charcot-Marie-Tooth Disease (CMT)
Charcot-Marie-Tooth disease is a genetic nerve disorder that affects the peripheral nerves. The condition is caused by a defect in the genes for proteins that are found in the structure and function of either the peripheral nerve axon or the myelin sheath. Patients with this condition often have muscle weakness as well as a loss of some of the sensation in the feet, lower legs, hands, and forearms. The disorder may also involve foot deformities
Congenital Myasthenic Syndrome (CMS)
Congenital myasthenic syndrome causes generalized weakness of voluntary muscles and muscle fatigue in the muscles that control mobility, eye movement, swallowing and breathing.
Dejerine-Sottas Disease
Dejerine-Sottas disease is an inherited neurological disorder that causes slow development of early motor milestones. Progression of the disease varies and is often associated with pain, weakness, numbness, and a tingling, prickling or burning sensation in the legs.
Myasthenia Gravis
Myasthenia gravis is an autoimmune disorder in which a child’s immune system makes antibodies which block messages sent from the brain to muscles. Children’s with myasthenia gravis often have trouble with eye and eyelid movement, facial expressions, chewing, swallowing, and holding up their head. Medications are used to help improve neuromuscular transmission and increase muscle strength. Sometimes the thymus gland may need to be surgically removed in a procedure called a “thymectomy” to help reduce symptoms.
INFLAMMATORY MYOPATHIES
Inflammatory myopathies are a group of muscle diseases that involve chronic muscle inflammation and muscle weakness. This is an autoimmune disorder in which the body’s white blood cells are attacked by its own immune system. Patients with inflammatory myopathies may have slow but progressive muscle weakness that begins in the proximal muscles.
Dermatomyositis
Dermatomyositis is characterized by reddish or purplish skin rashes, hard painful calcium nodules under the skin, muscle pain and tenderness, and progressive weakness of the muscles of the hips, thighs, upper arms, upper back, shoulders, and neck.
Polymyositis
Polymyositis involves inflammation of the skeletal muscles of both sides of the body. Symptoms such as progressive muscle weakness of neck and throat, shoulder, hip and thigh may occur.
SPINAL MUSCULAR ATROPHY
Spinal muscular atrophy is an inherited disease that attacks the motor neuron nerve cells and is characterized by progressive muscle degeneration and weakness.
Infantile Progressive Spinal Muscular Atrophy (SMA Type 1)
The most severe form of SMA causes infants to have poor muscle tone, progressive muscle weakness, lack of head control, trouble swallowing and sucking, and breathing problems.
Intermediate Spinal Muscular Atrophy (SMA Type 2)
Children’s with intermediate SMA may have weakness in the arms, legs, upper and lower torso in addition to joint deformities.
Juvenile Spinal Muscular Atrophy (SMA Type 3)
Juvenile SMA is the least severe form of the disease and is characterized by weakness in the leg, hip, shoulder, arm and respiratory muscles.
MUSCULAR DYSTROPHIES
Muscular dystrophy refers to a group of hereditary diseases that weaken the muscles associated with movement. Muscular dystrophy is caused by genetic deficiencies of the muscle protein dystrophin. There is no cure or specific treatment for any form of muscular dystrophy but medication, physical therapy, and assistive devices can slow the progress of some forms of muscular dystrophy.
Symptoms may begin in infancy or develop later in life.
Major forms of muscular dystrophy may include:
Duchenne Muscular Dystrophy
Duchenne muscular dystrophy is the most common form of muscular dystrophy and affects only boys between the ages of 2 to 6. The condition is characterized by generalized muscle weakness and muscle wasting that first affects the muscles of the hips, pelvis, thighs, and shoulders and eventually involves all of the voluntary muscles.
Becker Muscular Dystrophy
Becker muscular dystrophy generally occurs between the ages of 2 and 16 but can appear as late as age 25. Children with this condition may have enlarged calves and heart complications along with generalized weakness and wasting of the muscles of the hips, pelvis, thighs, and shoulders.
Emery-Dreifuss Muscular Dystrophy
Emery-Dreifuss muscular dystrophy usually appears between childhood to the early teen years and affects only males. It is characterized by weakness and wasting of shoulder, upper arm, and shin muscles but may also cause joint deformities and heart complications.
Facioscapulohumeral Muscular Dystrophy
The onset of facioscapulohumeral muscular dystrophy usually occurs in the teens to early adulthood and affects both men and women. The condition causes weakness and wasting of the muscles of the shoulders, upper arms, lower legs, and around the eyes and mouth.
Myotonic Muscular Dystrophy (MDD)
The onset of myotonic muscular dystrophy (Steinert disease) may occur between birth and adulthood but rarely occurs in the newborns. The condition causes muscle weakness and an inability to relax the muscles.
Congenital Muscular Dystrophy
Congenital muscular dystrophy is present at birth and is characterized by generalized muscle weakness and joint deformities.
