This weakness is usually even on both sides of the body. Leg weakness can result in frequent falls, toe-walking or in a particular ’waddling gait’ (swaying from side to side). This can also cause people to have hyperlordosis (arched back) and scoliosis (curved spine).
People can have difficulty in running, climbing stairs and rising from the floor. As the condition progresses, mobility may become increasingly difficult.
Shoulder and arm weakness can lead to difficulties in raising the arms above the head and in lifting objects, and shoulder blade winging may be present (scapular winging).
Some people may complain of muscle pain and cramps, especially in the legs. Calf hypertrophy (large calves) and macroglossia (large tongue) can be present. People with sarcoglycanopathies can develop joint contractures (tightening), most frequently involving the ankles.
Facial and neck muscles are not usually involved and therefore swallowing problems are unlikely.
People with sarcoglycanopathies are at risk of heart and breathing problems. These problems can occur even when weakness is mild, however, as the condition progresses, heart and breathing involvement tend to increase.
Heart involvement is more frequent in people affected by LGMD2E (β-sarcoglycanopathy), while LGMD2D is rarely associated with heart problems.
People with heart problems can experience symptoms of breathlessness and tiredness. However, some people can have heart problems even when they do not show symptoms.
Breathing problems are common in sarcoglycanopathies, but this is usually after losing the ability to walk (loss of ambulation). The first symptoms of breathing involvement can include poor sleep, nightmares, tiredness or headaches after waking up in the morning, lack of appetite and falling asleep during the day.
Sarcoglycanopthies are variable conditions in terms of severity. The weakness is always progressive with time although the rate of progression varies from person to person. Many people show a relatively rapid deterioration of weakness, resulting in loss of ambulation in early adulthood. Consequently, wheelchair use may be required with progression of the condition. LGMD2D is usually milder than LGMD2E and 2C.