What are FKRP related disorders?
Mutations in the FKRP gene also cause other, more severe forms of muscular dystrophy including merosin-deficient congenital muscular dystrophy type 1C (MDC1C), muscle-eye brain disease (MEB) and Walker-Warburg syndrome (WWS).
What is the treatment for limb girdle muscular dystrophy?
Treatment Options for Limb-Girdle Muscular Dystrophy Physical therapy for muscle weakness. Respiratory therapy for breathing issues. Occupational therapy for swallowing difficulties. Behavioral therapy to address cognitive function.
What is FKRP gene?
The FKRP gene provides instructions for making a protein called fukutin-related protein (FKRP). This protein is present in many of the body’s tissues but is particularly abundant in the brain, heart (cardiac) muscle, and muscles used for movement (skeletal muscles).
What causes Walker Warburg Syndrome?
Causes. Walker-Warburg syndrome can be caused by mutations in at least a dozen genes. The most commonly mutated genes were discovered first, including POMT1, POMT2, CRPPA, FKTN, FKRP, and LARGE1. Mutations in these genes are found in about half of individuals with Walker-Warburg syndrome.
Is exercise good for limb-girdle muscular dystrophy?
In LGMD, because muscle weakness is the main problem, muscular exercise can help to counteract the loss of muscle tissue and strength in LGMD.
How long do people with limb-girdle muscular dystrophy live?
Limb-girdle. In its most common form, Limb-girdle muscular dystrophy causes progressive weakness that begins in the hips and moves to the shoulders, arms, and legs. Within 20 years, walking becomes difficult or impossible. Sufferers typically live to middle age to late adulthood.
How is Walker-Warburg syndrome treated?
Medical science has not discovered a form of treatment for the severe brain malformations experienced by children with Walker-Warburg Syndrome. Supportive care, provision of comfort and nursing needs are very much required for babies with WWS.