This 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). People can have difficulty in running, climbing stairs and rising from the floor. As the condition progresses, mobility becomes increasingly more difficult.
Shoulder and arm weakness can lead to difficulties in raising the arms above the head, and in lifting objects. Some people may complain of muscle pain and cramps, especially in the legs, even before the onset of muscle weakness.
Calf hypertrophy (large calves) and macroglossia (large tongue) can be present.
People with LGMD2I can develop joint contractures (tightening) and more frequently they involve the ankles. Facial and neck muscles are not usually involved and therefore swallowing problems are unlikely. Unlike congenital muscular dystrophy type 1C, Learning difficulties and eye problems are not features of LGMD2I.
People with LGMD2I 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.
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 LGMD2I and these may occur before 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. As LGMD2I can involve the diaphragm, the first symptoms may be difficulty in breathing when lying flat.
LGMD2I is a variable condition in terms of severity. The weakness is always progressive with time although the rate of progression varies from person to person. Same people may be only mildly affected, whereas others may show a relatively rapid deterioration of weakness, resulting in loss of independent ambulation in early adulthood.
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