Muscular Dystrophy When Do You Know if Your Child Has It

What is muscular dystrophy?

Muscular dystrophy (Md) is a wide term that describes a genetic (inherited) disorder of the muscles. Muscular dystrophy causes the muscles in the body to become very weak. The muscles break down and are replaced with fatty deposits over time.

Other health problems commonly associated with muscular dystrophy include the following:

Center issues
Scoliosis. A lateral, or sideways, curvature and rotation of the back bones (vertebrae), giving the appearance that the person is leaning to i side.
Obesity

The most common forms of muscular dystrophy are Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy. The two forms are very similar, but Becker muscular dystrophy is less severe than DMD. Girls are rarely affected by either of these two forms of muscular dystrophy.

What causes muscular dystrophy?

Duchenne muscular dystrophy is a genetic illness which means it is inherited. Our genes make up one's mind our traits, such every bit eye color and claret type. Genes are contained in the cells of our bodies on stick-like structures called chromosomes. There are normally 46 chromosomes in each cell of our body, or 23 pairs. The outset 22 pairs are shared in common between males and females, while the last pair determine gender and are chosen the sex chromosome pair: females have two X chromosomes, while males have one Ten and i Y chromosome.

Duchenne muscular dystrophy is caused by an Ten-linked recessive factor. "10-linked" ways that the factor causing the trait or the disorder is located on the Ten chromosome. Genes on the Ten chromosome can be recessive or dominant, and their expression in females and males is non the same because the genes on the Y chromosome do not exactly pair up with the genes on the Ten. X-linked recessive genes are expressed in females only if there are two copies of the gene (one on each X chromosome). Nevertheless, for males there only needs to exist one re-create of an X-linked recessive gene in order for the trait or disorder to exist expressed. For example, a woman tin can carry a recessive gene on 1 of the X chromosomes unknowingly, and pass it on to a son, who will express the trait or illness.

What are the symptoms of muscular dystrophy?

Muscular dystrophy is usually diagnosed in children between three and 6 years of age. Early signs of the affliction include a delay in walking, difficulty rising from a sitting or lying position, and frequent falling, with weakness typically affecting the shoulder and pelvic muscle as one of the initial symptoms. The post-obit are the virtually mutual symptoms of muscular dystrophy. However, each child may experience symptoms differently. Symptoms may include:

Clumsy movement
Difficulty climbing stairs
Oft trips and falls
Unable to leap or hop normally
Tip toe walking
Leg hurting
Facial weakness
Inability to shut eyes or whistle
Shoulder and arm weakness

A tell-tale clinical characteristic for Duchenne muscular dystrophy (DMD) is Gowers' sign. Children with Duchenne muscular dystrophy observe it very hard to get up from a sitting or lying position on the flooring. They first pull up to their hands and knees. The child walks his or her hands upwards their legs to brace themselves as they rise to a standing position.

In addition, children with muscular dystrophy frequently have very large calves due to the big amounts of fatty deposits that are replacing muscle.

The symptoms of muscular dystrophy may resemble other conditions or medical problems. Always consult your child'south medico for a diagnosis.

How is muscular dystrophy diagnosed?

The diagnosis of muscular dystrophy is made with a physical test and diagnostic testing past your kid's md. During the exam, your child's doctor obtains a consummate prenatal and birth history of the kid and asks if other family members are known to have muscular dystrophy.

Diagnostic tests for muscular dystrophy may include:

Claret tests. These include genetic blood tests.
Muscle biopsy. The primary test used to ostend diagnosis. A pocket-sized sample of muscle tissue is taken and examined under a microscope.
Electromyogram (EMG). A test to cheque if the musculus weakness is a result of destruction of muscle tissue rather than nerve harm.
Electrocardiogram (ECG or EKG). A examination that records the electrical activeness of the heart, shows abnormal rhythms (arrhythmias or dysrhythmias), and detects middle muscle damage.

Treatment for muscular dystrophy

Specific treatment for muscular dystrophy will be adamant by your child's dr. based on:

Your kid'southward age, overall health, and medical history
The extent of the condition
The type of condition
Your child'southward tolerance for specific medications, procedures, or therapies
Expectations for the course of the condition
Your opinion or preference

To appointment, there is no known treatment, medicine, or surgery that will cure muscular dystrophy, or finish the muscles from weakening. The goal of treatment is to preclude deformity and permit the child to function as independently every bit possible.

Since muscular dystrophy is a life-long condition that is not correctable, management includes focusing on preventing or minimizing deformities and maximizing the kid's functional power at domicile and in the community.

Management of muscular dystrophy is either nonsurgical or surgical. Nonsurgical interventions may include:

Physical therapy
Positioning aids used to help the child sit, lie, or stand
Braces and splints used to preclude deformity, promote support, or provide protection
Medications
Nutritional counseling
Psychological counseling

Surgical interventions may be considered to manage the post-obit weather condition:

Scoliosis (a sideways curvature of the back bones) associated with muscular dystrophy
Maintaining the child's ability to sit or stand up

Long-term outlook for a child with muscular dystrophy

Muscular dystrophy is a progressive condition that needs life-long management to foreclose deformity and complications. Walking and sitting often becomes more hard as the child grows. Usually past the age of 12, the child needs a wheelchair because the leg muscles are too weak to piece of work. Middle or lung problems frequently occur past the belatedly teenage years or into the early 20s.

The interdisciplinary wellness care team will piece of work with your family to improve your child's functional outcomes and to provide support as y'all learn to care for your child'due south needs.

The Muscular Dystrophy Association tin can exist an important resource, both financially and emotionally, for parents of children with muscular dystrophy.

Children'southward Team

Children's Team

Providers

Christopher Spurney

Associate Director, Cardiology Fellowship Training Program
Cardiologist

Jeffrey Rabin

Vice-Chair, Pediatric Rehabilitation Medicine
Pediatric Rehabilitation Specialist
Chronic Pain Specialist

Departments

Movement Disorders Programme

The Motility Disorders Program at Children'south National Infirmary offers evaluation, diagnosis and treatment to more than 400 children each year with conditions that affect the speed, quality and ease of their motility.

Physical Medicine and Rehabilitation

The Segmentation of Physical Medicine and Rehabilitation treats and monitors infants, children and teens at all stages of inpatient and outpatient rehabilitative care.

Pre-Operative Intendance Dispensary

When your child is having surgery at Children's National Hospital, the Pre-Operative Care Clinic'due south (POCC) squad of pediatric professionals screens patients for surgery and creates a specific intendance program for each patient.

Bone Wellness Program

Orthopaedists at Children's National offer globe-renowned expertise and life-changing care, including surgery, for children at high risk for os fracture.

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Source: https://childrensnational.org/visit/conditions-and-treatments/movement-disorders/muscular-dystrophies