Congenital myasthenic syndromes and myasthenia

Limb-girdle congenital myasthenic syndromes (LG-CMS) are a group of genetic disorders of the neuromuscular junction that have already been associated with mutations in 10 different genes. Our patient is a 17 years-old young woman from Polish origin who was referred to the neurology clinic at the age of 8 for walking and running difficulties. Walking was acquired between the age of 18 and 24 months. She always had difficulties for running and her walking perimeter was reduced to a few hundreds of meters.
Source: Neuromuscular Disorders - Category: Neurology Authors: Source Type: research