Central Core Disease
Central Core Disease: (CCD), also known as central core myopathy
What causes these disorders?: Caused by mutation is the RYR1 gene but also theorized to be due to the large number of gene mutations of ryanodine receptor malfunction but also there is research claiming its found in clinical variants.
What are the signs and symptoms?: Symptoms can either appear at birth or later in life, many different symptoms but often include, hypotonia (decreased muscle tone) at birth, weakness of the facial muscles, skeletal malformations (aka scoliosis and hip dislocation), and mild delay in child development.
How is the muscular system disrupted?: Muscles get weaker and are unable to function as they should (might need more but I wasn’t sure of the question)
How is it diagnosed?: Diagnosed by combining the typical symptoms and the appearance on the tissue sample from the muscle. The name “central core” came from the appearance on the muscle sample under the microscope, the muscle cells have cores that are without mitochondria and some specific enzymes.
What are possible treatments and cures?: There is no treatment or cure. However triggering medicines can be avoided by screening for RYR1 mutations but is not a complete cure.
What is the prognosis for patients diagnosed with this disease?: It can seriously affect the heart and children growing up with it need physical therapy and often genetic counseling. There is no set prognosis.
Who gets this disease? Often found at birth but symptoms can also start the appear later in life. Hereditory- 50% chance that the children of people with it will receive it.
What is the incidence of this disorder? It’s a rare disease
What is the current status of research on this disorder? No current cure or treatment ideas, I didn’t find anymore about the research.
Is there a cure coming soon? No, there have been no close discoveries.
What causes these disorders?: Caused by mutation is the RYR1 gene but also theorized to be due to the large number of gene mutations of ryanodine receptor malfunction but also there is research claiming its found in clinical variants.
What are the signs and symptoms?: Symptoms can either appear at birth or later in life, many different symptoms but often include, hypotonia (decreased muscle tone) at birth, weakness of the facial muscles, skeletal malformations (aka scoliosis and hip dislocation), and mild delay in child development.
How is the muscular system disrupted?: Muscles get weaker and are unable to function as they should (might need more but I wasn’t sure of the question)
How is it diagnosed?: Diagnosed by combining the typical symptoms and the appearance on the tissue sample from the muscle. The name “central core” came from the appearance on the muscle sample under the microscope, the muscle cells have cores that are without mitochondria and some specific enzymes.
What are possible treatments and cures?: There is no treatment or cure. However triggering medicines can be avoided by screening for RYR1 mutations but is not a complete cure.
What is the prognosis for patients diagnosed with this disease?: It can seriously affect the heart and children growing up with it need physical therapy and often genetic counseling. There is no set prognosis.
Who gets this disease? Often found at birth but symptoms can also start the appear later in life. Hereditory- 50% chance that the children of people with it will receive it.
What is the incidence of this disorder? It’s a rare disease
What is the current status of research on this disorder? No current cure or treatment ideas, I didn’t find anymore about the research.
Is there a cure coming soon? No, there have been no close discoveries.