Mutations in three different genes — EMD, FHL1, and LMNA — can cause EDMD. The symptoms of the disease usually start appearing by age 10. All three gene mutations cause similar symptoms, which are summarized below. The patient’s intellectual capacity is unaffected in EDMD.
Muscle weakness and wasting
Toe-walking is often seen in the initial stages of EDMD due to stiffness in the Achille’s tendon, which makes landing on the heels painful. Gradual progression of muscle weakness is seen, along with wasting of muscles in the shoulders, upper arms, and calves.
Contractures (stiffness) in joints are also observed in the early stages of EDMD. Joint contractures usually affect the neck, heel, and spine, inhibiting free movement. In most cases, the breastbone sinks into the chest, creating a deep dent. This is called pectus excavatum.
Heart problems in EDMD usually start appearing when patients are in their 20s or 30s and can sometimes be fatal. Reported heart abnormalities include conduction defects, rhythm disturbances (palpitations), and dilated cardiomyopathy (stretched and thinned heart muscle). Patients might faint due to these heart issues.
Most individuals with EDMD show elevated levels of a protein called creatine kinase (CK) in their blood, which is characteristic of muscular dystrophy. Increased CK levels in the blood indicate skeletal or heart muscle damage.
Many patients also show increased levels of plasma triglycerides and LDL cholesterol (also known as “bad” cholesterol), which make them susceptible to heart disease. In some patients, the ability to make healthy fat is reduced, a condition known as lipodystrophy.
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