What is MDC1A?

Congenital muscular dystrophy type 1A (MDC1A) belongs to a group of neuromuscular disorders that beings at birth or infancy and is characterized mainly by hypotonia, muscle weakness and muscle wasting.

What is LAMA2 gene?

The LAMA2 gene provides instructions for making a part (subunit) of certain members of a protein family called laminins. Laminin proteins are made of three different subunits called alpha, beta, and gamma. There are several forms of each subunit, and each form is produced from instructions carried by a different gene.

What is Merosin?

Merosin collectively is a term that refers to a group of laminins that share the alpha2 subunit encoded by the LAMA2 gene. Laminins are a family of high molecular weight glycoproteins that function as extracellular matrix components of the structural basement membrane.

What is Ullrich congenital muscular dystrophy?

Ullrich congenital muscular dystrophy is characterized by generalized muscle weakness and striking hypermobility of distal joints in conjunction with variable contractures of more proximal joints and normal intelligence. Additional findings may include kyphoscoliosis, protruded calcanei, and follicular hyperkeratosis.

What is LAMA2 related muscular dystrophy?

LAMA2-related muscular dystrophy is a disorder that causes weakness and wasting (atrophy) of muscles used for movement (skeletal muscles). This condition varies in severity, from a severe, early-onset type to a milder, late-onset form.

What is laminin function?

Laminins are glycoproteins with both common and specific functions. One common and most important function of laminins is to interact with receptors anchored in the plasma membrane of cells adjacent to basement membranes. In doing so laminins regulate multiple cellular activities and signaling pathways.

What is related muscular dystrophy?

Muscular dystrophy is a group of diseases that cause progressive weakness and loss of muscle mass. In muscular dystrophy, abnormal genes (mutations) interfere with the production of proteins needed to form healthy muscle.

How common is Ullrich muscular dystrophy?

Most of these affect around one in every 1,000 people in the UK. I have a rare, degenerative condition called Ullrich congenital muscular dystrophy (UCMD). The congenital part means that it’s present from birth.

What is the average lifespan of someone with muscular dystrophy?

Until recently, children with Duchenne muscular dystrophy (DMD) did not often live beyond their teens. However, improvements in cardiac and respiratory care mean that life expectancy is increasing, with many DMD patients reaching their 30s, and some living into their 40s and 50s.