Symptoms Limb girdle muscular dystrophy 2B (LGMD2B)

People with LGMD2B often have initial symptoms of weakness and wasting (loss of muscle bulk) in the hip, thigh and shoulder muscles.

Wasting of calf muscle is also a predominant feature in the majority of people, and they may complain of difficulties in standing on their tiptoes.

The weakness can be more severe on one side of the body and leg involvement is present before shoulder and arms. This can result in frequent falls, difficulty in running, climbing stairs and rising from the floor.  As the condition progresses, people can have problems with walking.

The distal muscles (hand and forearm muscles in upper limbs and ankle and calf muscles in the lower limbs) can also be involved and occasionally people affected by LGMD2B show both thigh and foot weakness. It is worth mentioning, however, that these symptoms can also be present in some people at the onset of the condition. When this distal muscle involvement is present, people may have difficulties in walking because of foot drop which causes them to stumble frequently.

Shoulder and arm weakness can lead to difficulties in raising the arms above the head, and in lifting objects. Some people complain of muscle pain and swelling in the legs, especially in the calves, but this is usually transient.

Facial and neck muscles are not usually involved and therefore swallowing problems are unlikely.

Whether heart problems are present in LGMD2B is under debate at the moment. Patients with LGMD2B appear rarely to develop clinically significant heart problems.

People with LGMD2B are at risk of developing respiratory muscle weakness and experience breathing difficulties with the progression of the condition, but this is usually a late complication.

LGMD2B is a variable condition in terms of severity and the weakness is always progressive with time although the rate of progression varies from person to person. The rate of progression is usually slow and most people remain able to walk (ambulant).

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