Types of muscular dystrophy

who does Myotonic affect? (Hint: turn the "M" in myotonic upside down and it looks like a "W" ...so M:men and W:women

men/women ages 20-30

Myotonic (hint: my adult CTG)

most common *ADULT* MD Type 1 and Type 2 *Type 1*: up to *4000 "CTG" genetic code verses 37* repeats in normal # of repeats reflects severity

S/S congenital

problems w *motor fxn/ muscle control* appear @ birth/infancy *chronic muscles/tendons shortening around jnts, prevents jts from moving freely scoliosis breathing/ swallowing difficulties foot deformities ID

when does Distal MD appear? (hint for when it appears...*distal sounds like *distant*....distant future as in later in life)

typically 40 - 60 years old. less severe, progresses more slowly but it can spread to other muscles. Pts may eventually need ventilator.

Becker pts. may:

walk on *toes* frequently *fall* *rise from FLOOR difficult* muscle cramping

Becker

also *dystrophin deficiency* S/S similar to DMD *slow or quick progression*

when does Congenital MD occur?

appears at birth or by age 2. "present from birth." affects boys & girls, often require support to sit/ stand may never learn to walk. Some die in infancy others live into adulthood w mild disability.

Facioscapulohumeral FSHD (hint: medical terminology, the name says it all)

areas affected: face (facio), shoulders (scapulo), and upper arms (humeral). idiopathic...gene? do know where defect occurs and that it affects specific muscle groups.

*onset* of symptoms Emery-Dreifuss

begin age *10 - mid-20s*. often *heart problems by age 30*, may die in mid-adulthood from progressive *pulmonary or cardiac* failure

Limb-girdle appears when?

childhood..most often in *adolescence or young adulthood.* Progression: quickly or slowly, most pts become severely disabled (w muscle damage and inability to walk) within 20 years of developing disease.

FSHD, when/how it occurs

eyes first (difficulty in opening/ shutting) mouth (inability to smile/pucker). 7 Other symptoms Muscle wasting *shoulders* appear slanted/ *"winged"* )Impaired reflexes only biceps/ triceps* *Trouble swallowing, chewing,speaking Hearing problems Swayback/lordosis*

Emery-Dreifuss (hint: think Richard Dreifuss was a boy)

*boy primarily, 2 forms defects in *proteins that surround nucleus*

development of Duchenne (hint: "that Duchenne boy)

*boys 3-5 yrs* *rapid* progression *unable to walk by 12 yrs* later may need *respirator* *death* late *teens/early 20's* secondary to heart/respiratory/infections

Myotonic causes... (hint: myo means muscle, ton: effects tone)

*can't relax muscles* followed by *sudden contraction* *long/thin face/ neck* *swallowing* difficulties drooping eyelids, cataracts, *vision problems* front scalp *baldness* *weight loss sweating drowsiness heart problems/death age 30 -40 menstrual irregularity/infertility/impotence*

Becker primarily seen in...(hint: boy named Becker)

*males 11 to 25* varies from *no W/C.* to not able to walk during teens -mid 30's/later*

Duchenne

*most common/most severe among children* > 50% *dystrophin protein deficiency* : dystrophin: *strengthens muscle fibers/protects* from injury

Who does FSHD effect?

*teen boys/girls* typically may occur as *late as 40*. Most have *normal life span*, symptoms vary mild to severely disabling.

S/S Duchenne

*weakness* begins in *upper legs/pelvis* many *falls, difficulty rising from LYING DOWN/SITTING * *run/jump difficult* large/*fat calf muscles*

what does Limb girdle look like?

1st: weakness around hips, spreads to the shoulders, legs, neck Fall down a lot trouble rising from *chairs, climbing stairs, or carrying things* *Waddle* when they walk *rigid spine*

Oculopharyngeal appears when?

40s or 50s. Some will eventually lose ability to walk.

congenital

50% U.S. cases w congenital cause: *defect in protein MEROSIN*: surrounds muscle fibers. When caused by defects in other proteins, t\may also affect CNS

Distal MD

group of diseases affect DISTAL muscles: forearms, hands, lower legs, feet. cause:defects in protein *dysferlin5* men and women.

Oculopharyngeal may cause

Drooping eyelids- vision problems Swallowing problems Muscle wasting/ weakness in neck, shoulders, sometimes limbs Heart problems

Distal MD physical impairments

Inability to perform hand movements: extending fingers Trouble walking/climbing stairs Inability to hop or stand on the heel

Limb-girdle (hint: both men and women have limbs/girdles)

males/females, dift types caused by *dif't gene mutations*. *inherit from either parent*, or, more *severe* form, same defective gene from *both parents*

Oculopharyngeal

men and women, mild or severe. cause: defect in *protein that binds to molecules that help make other proteins*. common among Americans of *French-Canadian descent, Jewish Ashkenazi, and Hispanics* from the Southwest region.

Common S/S Emery-Dreifuss

Weakness begins upper arm/ lower leg muscles. may also: Develop *chronic shortening of muscles around joints* (prevents free mvt., in spine, ankles, knees, elbows, back of neck elbows locked/ flexed position shoulder deterioration rigid spine Walk on toes mild weakness in facial muscles