Symptoms Limb girdle muscular dystrophy 1C (LGMD1C)

People with LGMD1C can have initial symptoms of weakness and wasting (loss of muscle bulk) in the hip, thigh and shoulder muscles.

Other people can show predominant distal muscle weakness (hand and forearm muscles in upper limbs and ankle and calf muscles in the lower limbs). This weakness is even on both sides of the body and usually is mild to moderate.

Upper leg weakness 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. Shoulder and arm weakness can lead to difficulties in raising the arms above the head, and in lifting objects.

When distal muscle involvement is present, people may have difficulties in walking because of foot weakness (foot drop) which causes them to stumble frequently. People who have hand weakness may have difficulties in performing simple tasks (for example opening bottles).

Rippling muscle disease is a condition in which people have visible ripples which move over the muscle. These can occur spontaneously or be induced by rapid tapping of the muscles. Many people affected by caveolinopathy, regardless of their symptoms, may show muscle rippling at the onset or later stages of the condition.

It is important to mention that the individual features of muscle weakness can be different from person to person, even within the same family.

Muscle hypertrophy (large muscles), especially calf hypertrophy, is often present in people with LGMD1C. Often people complain of muscle pain and cramps, especially in the legs and after exercise. Facial and neck muscles are not usually involved and therefore swallowing problems are unlikely.

Heart and breathing problems are usually not a feature in this condition. However, heart involvement with dilated cardiomyopathy has (rarely) been reported.

LGMD1C is a variable condition in terms of severity and the weakness, but usually the progression is slow to moderate and people remain able to walk (ambulant)

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