Limb-girdle Muscular Dystrophy - Presentation

Presentation

The term "limb-girdle" is used to describe these disorders because the muscles most severely affected are generally those of the hips and shoulders—the limb girdle muscles.

Common symptoms of limb-girdle muscular dystrophy are muscle weakness, myoglobinuria, pain, myotonia, cardiomyopathy, elevated serum CK, and rippling muscles.

The disease inevitably gets worse over time; although some individuals feel the affects more rapidly than others. Eventually the disease involves other muscles such as the ones located in the face. The disease causes loss of movement or dependence on a wheelchair within twenty to thirty years.

The muscle weakness is generally symmetric, proximal, and slowly progressive.

In most cases, pain is not present with LGMD, and mental function is not affected.

LGMD can begin in childhood, adolescence, young adulthood or even later. The age of onset is usually between 10 and 30. Both genders are affected equally. When limb-girdle muscular dystrophy begins in childhood the progression appears to be faster and the disease more disabling. When the disorder begins in adolescence or adulthood the disease is generally not as severe and progresses more slowly.

There is no sensory neuropathy or autonomic or visceral dysfunction at presentation. The specific dermatomes affected can be demonstrated clinically, and although lower limb deep tendon reflexes and plantar reflex are lost, abdominal reflexes are preserved.