MDF Magazine Issue 62 7 August 2020 (7)

MD
4. Limb-Girdle
Both boys and girls can inherit the defective gene from either parent or, in more severe cases, the same genetic
defect from both parents.
• Common Symptoms: Fall down a lot, develop hip weakness that spreads to shoulders, legs and neck, waddle
gait, rigid spine, diffi culty climbing stairs
• Progression: Usually presents in young adults and progresses to severe symptoms within the next 20 years.
5. Facioscapulohumeral
This form of MD affects the face, shoulders and upper arms, although the exact gene that causes it is not known.
• Common Symptoms: Difficulty closing and opening eyes, trouble smiling or puckering, bicep and tricep refl ex
impairment, hearing problems, lordosis curve of the spine, muscle wasting around shoulders
• Progression: Both boys and girls are affected in their teens. The life span is normal, but symptoms can be
debilitating.
6. Congenital
Most often caused by a genetic defect in muscle fi ber proteins but can sometimes affect the central nervous
system.
• Common Symptoms: Scoliosis (curvature of the spine), muscle shortening that stiffens joints, difficulty with
muscle control from birth, feet deformities, intellectual disabilities, trouble breathing and swallowing
• Progression: Evident by age two in boys and girls. Ambulation may never occur, but death is possible in infancy.
7. Oculopharyngeal
This form of MD is common in specifi c ethnic groups including French-Canadian, Jewish Ashkenazi and Hispanics
from the southwestern United States.
• Common Symptoms: Heart problems, drooping eyelids, muscle wasting in shoulders and neck, trouble
swallowing
• Progression: Symptoms usually reveal before age 60 and progress slowly. Some become non-ambulatory.
8. Distal
Distal MD can present in men and women, and it affects the forearms, lower legs, hands and feet.
• Common Symptoms: Trouble extending fi ngers, difficulty hopping or standing on heels, inability to climb stairs
without difficulty, trouble forming hand gestures
• Progression: Usually presents between ages 40 to 60. Progression is slow but could eventually result in the need
for a ventilator.
9. Emery-Dreifuss
This MD variation is caused by a defect in the proteins surrounding cell nucleus, and it affects boys primarily.
• Common Symptoms: Elbows may lock in a fl exed position, shoulder deteriorates, walk on tiptoes, rigid spine,
facial muscle weakness, chronic muscle shortening in back of neck, ankles, knees, elbows or spine
• Progression: Symptoms often present by age ten. Heart problems occur in late 20s, and death from pulmonary
or cardiac failure is likely in middle age.
MD is considered a rare disease by the National Institutes of Health because it affects fewer than 200,000 people
in the US population. Each year, between 500 and 600 male infants are diagnosed with MD, putting the incidence
rate at approximately one in every 544,000. For the thousands who suffer, MD is a debilitating and potentially fatal
condition.
Treatment for Muscular Dystrophy
MD itself does not typically cause severe pain; however, secondary chronic pain associated with the disorders is
estimated to affect two-thirds of the sufferers. Pain is caused by muscle cramps or spasms as well as stiff joints,
pressure sores and muscle twitches. While traditional treatments such as physical therapy, heat application and
exercise can alleviate some of the pain associated with MD, narcotic pain medication is often required at some
point.
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