Limb-Girdle Muscular Dystrophy, Type 2L (ANO5)

Limb-girdle muscular dystrophy, type 2L (LGMD2L) is an autosomal recessive disorder caused by pathogenic variants in ANO5. Typical onset of symptoms is in adulthood, but in some cases symptoms may arise in childhood. Symptoms include muscle weakness and wasting, often in the thigh and calf muscles, and symptoms may be more severe on one side of the body. Symptoms frequently lead to falls or difficulty in running, climbing stairs, standing on tiptoes, and rising from the floor. As the condition progresses, affected individuals can also develop weakness in their arms, resulting in difficulties with lifting heavy objects. Breathing difficulties and cardiac issues are rare in LGMD2L. Life expectancy may be reduced depending on the severity of the symptoms. No clear genotype-phenotype correlation has been established.

For information about carrier frequency and residual risk, please see the residual risk table.

This gene is included on the following panel(s):