Symptoms Limb girdle muscular dystrophy 2L (LGMD2L)

People with LGMD2L often have initial symptoms of weakness and wasting (loss of muscle bulk) in the thigh and calf muscles and it can be more severe on one side of the body.

Some patients might show hypertrophy (increase of muscle bulk) of calf muscles. Hyperextension of the knees can also occur.

The weakness and wasting of the lower limbs can lead to frequent falls, difficulty in running, climbing stairs and rising from the floor. Some people predominantly show involvement of the distal muscles of the legs only (calf muscle) and they may initially complain of difficulties in standing on their tiptoes.

They might also have difficulties in walking because of foot drop which causes them to stumble frequently. As the condition progresses, people can also develop some weakness in their arms, resulting in difficulties with lifting heavy objects.

Facial and neck muscles are not usually involved and therefore swallowing problems are unlikely. Respiratory and heart problems appear to be rare in LGMD2L. Females are often less severely affected than males, and might show symptoms only later in life.

The severity and progression of the disease is variable from person to person and even among members of the same family.

LGMD2L is a variable condition in terms of severity. The weakness is always progressive, however the rate of progression is usually slow and most people remain able to walk (ambulant) until late adulthood. Based on our current knowledge about this form of LGMD, life expectancy is generally within a normal range because the heart and breathing muscles are usually not affected.

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