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 Merosin deficient muscular dystrophy?
DESCRIPTION. Merosin Deficient Congenital Muscular Dystrophy (CMD) is a rare and highly severe type of muscular dystrophy. Mutations in the LAMA2 gene have been identified as the cause of congenital merosin-deficient CMD. Children with this form of CMD lack all or part of the muscle protein merosin, or laminin.
Is there a treatment for Walker-Warburg?
There is no specific treatment available for Walker-Warburg, and the management of the disease is very individual-specific, depending on the symptoms. Babies who experience seizures are usually treated with anticonvulsants. Physiotherapy, or physical therapy, can help to prevent the worsening of contractures.
How long is the average lifespan of a person with myotonic dystrophy?
The median survival was 60 years for males and 59 years for females. Survival of the patients was also estimated from the age of 15 years to the ages of 25, 45 and 65 years and compared with the expected survival of age- and sex-matched birth cohorts from the normal Dutch population.
What is the average life expectancy of someone with myotonic dystrophy?
We found a median survival of 59–60 years for the adult-type myotonic dystrophy. Reardon et al. (1993) found a median survival of 35 years for the congenital type. Thus, patients with the adult-type of myotonic dystrophy have a considerably better prognosis than those with the congenital type.
How long can you live with myotonic dystrophy?
What are symptoms of Walker-Warburg syndrome?
These can include unusually small eyeballs (microphthalmia), enlarged eyeballs caused by increased pressure in the eyes (buphthalmos), clouding of the lenses of the eyes (cataracts ), and problems with the nerve that relays visual information from the eyes to the brain (the optic nerve ).
How is Walker-Warburg syndrome diagnosed?
A diagnosis can be suspected via routine ultrasound and/or fetal MRI during the late stages of pregnancy and confirmed at or shortly after birth. During the pregnancy, imaging can suggest WWS when there is type II lissencephaly (smooth brain), cerebellum abnormalities and other early changes in the brain and eye.
What are the symptoms of Walker-Warburg Syndrome?
Disease at a Glance Walker-Warburg syndrome (WWS) is a severe form of congenital muscular dystrophy associated with brain and eye abnormalities. Signs and symptoms are typically present at birth and include hypotonia, muscle weakness, developmental delay, intellectual disability and occasional seizures.