Limb-girdle muscular dystrophy – Wikipedia, the free encyclopedia

Limb-girdle muscular dystrophy or Erb's muscular dystrophy is an autosomal class of muscular dystrophy that is similar but distinct from Duchenne muscular dystrophy and Becker's muscular dystrophy. Limb-girdle muscular dystrophy encompasses a large number of rare disorders. Currently, there is no cure and the disease inevitably worsens over time.

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

Symptoms of limb-girdle muscular dystrophy vary widely, but most commonly are muscle weakness and atrophy, myoglobinuria, myotonia, elevated serum CK, and, in ~20% of cases, cardiomyopathy.

The disease inevitably gets worse over time, although progression is more rapid in some patients than others. Eventually the disease can affect other muscles such as the ones located in the face. The disease commonly leads to dependence on a wheelchair within twenty to thirty years of symptom onset, but there is high inter-patient variability, with some patients maintaining mobility.[1]

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.

A person with LGMD generally has difficulty walking, going both up and down stairs and raising from a chair or a squatting position. Difficulty bending over and falling on a regular basis are also common. Difficulty lifting certain objects is also a common presentation of LGMD as well as difficulty holding your arms out or above your head.[2] Eventually the ability to walk/run deteriotes. It is advised that someone with the disorder not put themselves in situations of potential peril. For example, walking on floors that have even the slightest incline can cause the individual to lose balance and fall. It is not recommended for someone with the disease to walk on terrain which is not stable such as ice or other slippery surfaces to avoid a severe injury. This is mainly due to the fact that LGMD weakens the leg muscles so an individual with LGMD would be more inclined to fall than someone who does not suffer from the disorder. At times, heart palpitation can occur.[3]

The distal muscles are affected late in LGMD, if at all. The disease typically causes loss of mobility or dependence on a scooter/wheelchair within 20 to 30 years of symptom onset.[3] The various forms of LGMD are highly variable, and can be variable even among persons with the same form of LGMD. In its most severe form, LGMD2C, the symptoms are usually similar to Duchenne Muscular Dystrophy, with individuals losing the ability to walk between ages 10 and 12. In its mildest form, affected individuals have near-normal muscle strength and function.

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Limb-girdle muscular dystrophy - Wikipedia, the free encyclopedia