What are congenital muscular dystrophy?
LMNA-related congenital muscular dystrophy (L-CMD) is a condition that primarily affects muscles used for movement (skeletal muscles). It is part of a group of genetic conditions called congenital muscular dystrophies, which cause weak muscle tone (hypotonia) and muscle wasting (atrophy ) beginning very early in life.
What are the different types of congenital muscular dystrophy?
Subdivisions of Congenital Muscular Dystrophy
- Bethlem congenital muscular dystrophy.
- congenital muscular dystrophy type 1A (MDC1A; merosin-deficient CMD)
- congenital muscular dystrophy type 1B (MDC1B)
- congenital muscular dystrophy type 1C (MDC1C)
- congenital muscular dystrophy type 1D (MDC1D)
What is CMD disorder?
Congenital muscular dystrophy (CMD) refers to a group of muscular dystrophies that become apparent at or near birth. Muscular dystrophies in general are genetic, degenerative diseases primarily affecting voluntary muscles.
How common is congenital muscular dystrophy?
Congenital muscular dystrophies (CMD) are extremely rare and greatly heterogeneous neuromuscular disorders with onset at birth or early infancy, characterized by hypotonia, delayed motor development, and progressive weakness.
What causes congenital muscular dystrophy?
The CMDs are caused by genetic defects that affect important muscle proteins. Most forms of CMD are inherited in an autosomal recessive pattern. In brief, if a disease is recessive, two copies of the defective gene (one from each parent) are required to produce the disease.
Why are babies born with muscular dystrophy?
What Causes Muscular Dystrophy? Muscular dystrophy is a genetic condition. Genetic conditions are passed from a parent (or parents) to their child. In muscular dystrophy, a gene change prevents the body from making the proteins needed to build and maintain healthy muscles.
Can a child be born with muscular dystrophy?
The term congenital muscular dystrophy (CMD) is actually the name for a group of muscular dystrophies united by the fact that muscle weakness begins in infancy or very early childhood (typically before age 2). Congenital diseases are those in which the symptoms are present at or soon after birth.
What does muscular dystrophy look like in a baby?
Muscular dystrophy is usually diagnosed in children between 3 and 6 years of age. Early signs of the illness include a delay in walking, difficulty rising from a sitting or lying position, and frequent falling, with weakness typically affecting the shoulder and pelvic muscle as one of the initial symptoms.
Does muscular dystrophy show at birth?
Some forms of muscular dystrophy are apparent at birth or develop during childhood. Some forms develop later during adulthood.
What is the ribbon color for muscular dystrophy?
green
Additionally, green is the official color of muscular dystrophy awareness. Wearing this color unites us and symbolizes support of the individuals living with muscular dystrophy and related diseases.