What is Merosin deficient muscular dystrophy?

What is Merosin deficient muscular dystrophy?

Merosin-deficient congenital muscular dystrophy is an autosomal recessive form of muscular dystrophy characterized by muscle weakness apparent at birth or in the first 6 months of life. Patients show hypotonia, poor suck and cry, and delayed motor development; most never achieve independent ambulation.

Can you live a normal life with Becker muscular dystrophy?

If the cardiac aspects of the disease are minimal, or if they are adequately controlled through medical intervention, a normal or nearly normal life span can be expected. Patients with BMD usually live at least 30 years. They have a mean age of death in the mid-40s.

What is the long term outlook for the child with myotonic dystrophy?

Long Term Outlook Longevity. For children with the Congenital form once beyond the early problems of respiratory distress the prognosis for life is relatively good. There will be improvement in early childhood and children will make steady progress in these early years.

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.

Can you grow out of muscular dystrophy?

There’s no cure for muscular dystrophy. But treatments can help people stay as active and independent as possible. Clinical trials are ongoing and new medicines are being developed to treat and possibly cure muscular dystrophy.

Can muscular dystrophy happen later in life?

It can affect anyone from teenagers to adults in their 40s. Distal muscular dystrophy affects the muscles of the arms, legs, hands, and feet. It usually comes on later in life, between ages 40 and 60. Oculopharyngeal muscular dystrophy starts in a person’s 40s or 50s.

Is there a cure coming soon for Becker muscular dystrophy?

There is not a cure for Becker muscular dystrophy at present. A doctor may prescribe steroid medications to help individuals remain able to walk for as long as possible. The clinical course of Becker muscular dystrophy is variable.

What is congenital muscular dystrophy?

Some forms of congenital muscular dystrophy show severe brain malformations, such as lissencephaly and hydrocephalus. The most common childhood form of muscular dystrophy, affects predominantly boys (mild symptoms may occur in female carriers).

What are the different types of muscular dystrophies?

Other relatively common muscular dystrophies include Becker muscular dystrophy, facioscapulohumeral muscular dystrophy, and myotonic dystrophy, whereas limb–girdle muscular dystrophy and congenital muscular dystrophy are themselves groups of several – usually ultrarare – genetic disorders.

Is there a cure for muscular dystrophy?

Diagnosis often involves blood tests and genetic testing. There is no cure for any disorder from the muscular dystrophy group. Several drugs designed to address the root cause are under development, including gene therapy and antisense drugs.

How is muscular dystrophy (MD) diagnosed?

The diagnosis of muscular dystrophy is based on the results of muscle biopsy, increased creatine phosphokinase (CpK3), electromyography, and genetic testing. A physical examination and the patient’s medical history will help the doctor determine the type of muscular dystrophy.