Muscular Dystrophy

Autosomal Recessive

Both parents carry and pass the gene. *Emery-Dreifuss, LGMD, Oculopharyngeal, distal, congenital.

DMD

pattern of muscle weakness is always bilateral and symmetrical. Progresses from proximal to distal and affects LE before UE.

BMD

pattern of muscle weakness is symmetric starting in the pelvic girdle and thighs. Extends to trunk and UE. No facial muscles are affected.

Gower's maneuver

the inability to rise off the floor without using the UE to "walk up" the thighs to assist with hip extension. When a person is observed using this it is documented as a positive Gower's sign.

What are some of the stretches for MD?

*achilles stretches *hamstring stretches *calf stretches *hip flexors *IT bands *Thomas stretch *elbow flexors *forearm pronators *wrist flexors *long finger flexors

X-linked recessive

also called sex-linked. Mother who carries the gene passes it to her son. *Duchenne, Becker, Emery-Dreifuss

Charcot Marie Tooth (CMT)

an inherited neurological disorder that results in motor and sensory peripheral neuropathy.

creatine kinase

become elevated when there is muscle damage in the body, indicating muscle wasting is occurring.

Facioscapulohumeral MD (FSHD)

*Third most common type. *male and female *initially affects facial, shoulder, and upper arms. *asymmetry of mouth when smiling *cannot pucker or whistle *drooling *winged scapulae

Limb-Girdle MD (LGMD)

*affects boys and girls *symptoms begin around ages of 8 and 15 *pelvis, shoulders, and back. *hard time pushing things *hypotonia *poor head control *tightness in ankles, hips, knees, and elbows *sometimes dislocated hips *lordosis *stumbling *waddling *difficulty going up stairs *toe walking *enlarged calf muscles *heart problems *positive Gower's sign

Children with Duchenne MD are at increased risk for which types of learning disabilities?

*dyslexia *dyscalculia *sysgraphia

Modifications to the program include

*ensure regular exercise and outdoor play *encourage a buddy system *make use of computers *incorporate choice *language and music time *consistent routines *breathing exercises, such as blowing into tube to make the ball go up.

Emery-Dreifuss MD (EDMD)

*less common *primarily affects boys *muscle contractures appear first. Heel cords, elbows, and posterior neck *significant cardiac complications

Myotonic Muscular Dystrophy

*rare *affects hands and feet *muscles are unable to relax for several seconds after forceful contraction *infants show pronounced floppiness and are slow to develop *teen or adult onset *only 50% live beyond age 50 *pattern of weakness begins in the face, lower legs, forearms, hands, and neck. *males and females

Medical management

*respiratory maintenance *skin integrity *Pain *nutrition *OT and/or PT *drug intervention *surgical mgt.

Becker Muscular Dystrophy BMD

*second most common; 1/30,000 boys *affects only males. *symptoms appear between 6 and 18 y/o *appears as weakness in the pelvis muscles , then shoulders and back *delayed ambulation *difficulty climbing stairs *toe walking *cramps *fatigue *lifespan can be long and active and can be without a wheelchair

Assistive devices for children

*splints and bracing to improve flexibility *support breathing with a ventilator *prednisone *spinal fusion *OT to help children access school and address cognitive issues *assistive animals (carrying books, toys, opening doors)

Prevalence

1 in 5,000

The majority of children are unable to walk by ages

8-11

muscular dystrophy

A group of hereditary diseases that weaken the muscles. Muscle weakness is caused by the lack, or absence of the dystrophin which maintains the structure of the muscle. Acts as the "glue" to hold the muscle together. There are 30 types.

Etiology

Most MDs are familial. All are inherited genetic disorders.

Ocular Dystrophy

Rare. *Affects eyes and throat. *can lead to double vision, drooping eyelids, and difficulty swallowing.

Duchenne Muscular Dystrophy (DMD)

is x-linked recessive inherited condition that affects only males. *most common type and most severe type (every 1/3500 boys) *symptoms appear around age 5; by 12 majority will be unable to walk and made to use a wheelchair. *large calves *waddling gait *increased falls *inability to run or jump *90% have "valley sign"-depressed axillary fold that can be seen when patient abducts shoulders to 90 degrees with elbows flexed to 90 degrees. Lifespan is about 20 years