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What is congenital muscular dystrophy?
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.
Is Duchenne muscular dystrophy a congenital disorder?
Causes. DMD is inherited as an X-linked disease. X-linked genetic disorders are conditions caused by an abnormal gene on the X chromosome and manifest mostly in males. Females that have a defective gene present on one of their X chromosomes are carriers for that disorder.
What is congenital muscular dystrophy caused by?
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.
How is congenital muscular dystrophy diagnosed?
Genetic (DNA) tests, generally using a blood sample, can analyze the person’s genes for particular defects that cause CMD, help predict the likely course of a disease and help families assess the risk of passing on the disease to the next generation.
What are the symptoms of congenital muscular dystrophy?
Babies with congenital muscular dystrophy often have hypotonia (low muscle tone or floppiness) and may have reduced movements. Other common signs are contractures (tightness) of the ankles, hips, knees and elbows. Rarely, contractures can be severe and affect several joints (known as arthrogryposis).
What is the life expectancy of a child born with muscular dystrophy?
Duchenne MD – one of the most common and severe forms, it usually affects boys in early childhood; people with the condition will usually only live into their 20s or 30s.
Is there a cure for congenital muscular dystrophy?
No cure exists for CMD. Treatment is aimed at the specific symptoms present in each individual.
What is the treatment for congenital muscular dystrophy?
Specific treatment options may include physical and occupational therapy to improve muscle strength and prevent contractures; speech therapy; the use of various devices (e.g., canes, braces, walkers, wheelchairs) to assist with walking (ambulation) and mobility; surgery to correct skeletal abnormalities such as …
What is the life expectancy for muscular dystrophy?
Muscular dystrophies in general are genetic, degenerative diseases primarily affecting voluntary muscles. Babies with congenital muscular dystrophy are weak at birth and may have breathing or swallowing difficulties. Nowadays, better supportive care has improved survival, and clinical trials of disease-modifying treatments are not far away.
What is the pathophysiology of muscular dystrophy?
They are a group of heterogeneous disorders characterized by muscle weakness which is present at birth and the different changes on muscle biopsy that ranges from myopathic to overtly dystrophic due to the age at which the biopsy takes place.
How severe is muscular dystrophy?
For this type of inheritance, the severity of MD can vary greatly. It can be so mild that it is not recognized, but it can also be severe. Myotonic dystrophies, facioscapulohumeral muscular dystrophy (FSHD), and oculopharyngeal muscular dystrophy (OPMD) are autosomal dominant.
What is mild cerebellar hypoplasia in congenital muscular dystrophy?
The person with this form of congenital muscular dystrophy might have mild cerebellar hypoplasia in some cases . CMD/LGMD without MR -first years of a newborn begins with weakness, which affects motive skills, walking can be accomplished in adolescence, deformity and rigidity of joints.