Central core disease | skeletal muscles disease

Central core disease is a muscle disease. In this type of disease muscle which are involved in movement (skeletal muscles) becomes weeks. It affects muscle tension and contraction. This disease is named central core disease because it causes injury in the core of the muscle cell where the filament protein is disordered. This disease is a transfer from parents into offspring which causes skeletal abnormalities. It starts from minor to very severe.

The diseased persons have greater chances of the disease condition called malignant hyperthermia. Malignant hyperthermia can reduce the reaction activity of the painkiller. This kind of disorder is a gentle disorder. It has many harmful effects on the body. It is a genetic disease that is present in the parents and then it transfers into the offspring. This muscular disease is supposed to cureable disease if it is caused by the autosomal dominant characters. But Central core disease can cause harmful effects to a body if it is caused by autosomal recessive characters.

The disease is a core disease of the muscle fiber and so its name is based upon these unusual features present in the muscles. The first time these unusual features of the central core disease were seen by the scientists during their study of muscle fiber under the microscope. After the deep study and inquiries of muscle fiber, the scientists concluded that the patient that has the central core disease have less mitochondria (produce ATP which provide energy to the muscles) and don’t have sarcoplasmic reticulum in their muscles.

Effects of central core disease on body

Central Core disease has different effects in different patients. Sometimes its effects show in the early stages after the attack of this disease. Such as disorder in the central part of the muscle. Sometimes this disease show serious effects on the patient body and causes problem in inhaling and exhaling of air. In babies central core disease also causes abnormal softness in the muscles and in bones in the body of the baby.

The babies who born with this disease, they keep in high oxygen cabin to provide them a sufficient about of oxygen gas. At the time of birth the disease damages the muscles of fore limbs and hind limbs and the damage of the visceral organs that include stomach and respiratory tract etc. This disease decreases the activity of the legs and arms of the infected person. Intellectual ability of infected person will not be disturb. In newborn babies this disease causes blindness (both night and color blindness), hearing problem and voice problem etc.

This disease damages the skin cells of infected person. This disease damages all of the cells of the mouth. There are many disease which is caused by the damage of the muscles of the body and it also decreases the various activities of the body like breathing, digestion and the metabolic processes of the body. This disease leads to the death of an infected person and paralyzes the body.

It causes joint pain and in some cases this disease present at the 2 to 7 months of gestation period. During this period the mutations occur in the genes and germline of DNA of the person. This disease changes the basic chromosomal sequence of the DNA present in an infected person.

Due to this sequence change, the normal no. of genes disturb and DNA do not encode accurately. The inhalation of different gases (like carbon monoxide etc.) increases respiratory disorder. Sometimes it causes the overflow of the blood, disorder in the skull, and damages the cells of the kidneys. This disease develops the weakness in the cells of skin present at the mouth surface. Unusual developments of heartbeat and disturb the normal blood circulation in the body of the infected person caused by this disease.

This type of disease is the most prominent reason that causes weakness in the muscles. It can lead to high muscle abnormalities and malfunctioning. Commonly this disease attacks the muscles present in the trunk hips, upper legs. Muscles of the face and neck can also get attacked by central core disease. Skeletal abnormalities also caused due to this disease. These abnormalities may include bending of the backbone (a condition called scoliosis).

This disease can cause hip dislocation and blockage of muscle movement.

In infants, central core disease is the reason for severe muscle weakness and delayed or stunted growth and development of motor skills (many muscles collectively perform a specific functions like sit-stand etc.).

Some people got a lifetime effect of this disease with blockage of movements but some people who are suffering from this disease recover fast. In some cases, infected people feel difficulty in breathing, increased heart rate, muscle pain, and life-threatening. This type of disease is most related to muscle diseases like restricted muscle movement and dislocation of muscles.

Some people got this disease during surgery due to the use of different surgical equipment used in surgical treatment. Malignant hyperthermia is a disease in which severe muscle contraction occurs. This disease occurs due to the anesthetic gases used during surgery for the prevention of pain, in these gases special type of muscle relaxant is present. Due to these drugs, people are at the risk of muscle fiber breakdown (a condition called rhabdomyolysis), increased heart rate, and high level of acids in blood and tissues. These conditions cause lifetime threats until these conditions treated properly.

Causes of central core disease

The main causes of CCD are mentioned below:

  • The central core disease is an inherited disease which can be transmitted to next-generation due to mutation in the gene.
  • The RYR1 gene is the most important gene for protein synthesis. RYR1 gene gives instruction for protein synthesis said to be as ryanodine receptor.
  • This type of protein performs a key role in the functioning of cells of the different skeleton. The muscles should be contracted or relax by the interaction with each other to perform different activities.
  • Ryanodine receptor 1 protein makes a channel to provide calcium ions which are the keys of skeletal muscle to provide movement.

■ If any mutation occurs in the RYR1 gene it will allow the stored calcium ions to leak from the incorrect channels which stimulate the fibers of muscle to contract at the incorrect time which causes weakness of muscles which leads to central core disease.

  • Some people are affected by the central core disease due to the drugs used during the surgical processes. The reaction of drugs during surgery which leads to central core disease is said to be malignant hyperthermia.
  • People got affected by malignant hyperthermia due to the use of anesthetic gases during surgery which is used with a special type of muscle relaxant for the prevention of severe pain during surgery.
  • People who suffer from central core disease due to anesthetic gases will experience the breaking of the fiber of muscle, severe fever, increased heartbeat, and the high rate of acid in blood and tissues which condition called acidosis.
  • Central core disease caused due to the disorganized fibers of the muscles which are present in the core of the skeletal muscles.

Symptoms of central core disease

  • The symptoms of this disorder are described below:
  • Central core disease may starts to from mild to severe in mild cases symptoms are unnoticeable with little pain in muscles.
  • People who are suffering from high central core disease will notice clear symptoms like severe muscle pain, high fever, muscle stiffness or muscle cramps, etc.
  • People who got this disease during surgery will feel unbearable muscle pain, high fever, increased level of acid in blood and tissues said to be acidosis.
  • People with central core disease will face many abnormalities like dislocating muscle and serious respiratory difficulties.
  • The weakness of muscles also causes the stunted growth and development of muscles which affects many functions like sitting, standing, walking, eating, and running.
  • People with this diseases also find difficulties in developing the facial muscle.
  • Muscle got no effects which are present around the eyes in the case of autosomal dominant central core disease. In this case, affected person would not be able to walk independently.

Main areas that are affected by central core disease

  • The proximal part of the muscle is the closest muscle which is present in the middle of organ systems like the front arm legs, pelvis, shoulder, etc.
  • The area hip muscle is especially affected by the central core disease.
  • Muscle stiffness and muscle cramp occur which affects the development and growth of the muscle which will destroy the movement of muscle and restricted it to perform many functions like sitting, bending, running, etc.

Affected populations

Central core disease equally attacks both males and females. However, the precise number of people who are affected by this disease is still cannot be estimated. This is the most common type of muscle disease. It can occur in six out of 100,000 live births.

This disease firstly described in 1956 in three generations of families at that time central core disease was not well-known and have no name.

Related disorders:

Symptoms of this disease can be related to the symptoms of other diseases. Comparison of this disease with other diseases can prove helpful to differentiate central core disease.

  • Congenital fiber-type disproportion

This is a genetic disease that is visible at the time of birth. Its symptoms include weakness of muscles and destroyed facial features. Other visible and common symptoms of this disease are side by side curve of the backbone, dislocation hip muscle, and permanent fixation of muscle at the wrong point.

  • Multi-mini core disease

This disease is also known as mini core myopathy and multicore myopathy. This disease is also an inherited disease that is caused due to genetic disorders. Some of the common symptoms of this are the destroyed muscle shape and structure which can cause floppiness, severe weakness of muscles. Some people who are suffering from this disease also felt some difficulty in respiratory disorder and in feeding. This disease can be detected by biopsy.

  • Congenital myopathy

Congenital myopathy is also a type of muscle disease. It can be identified at the time of birth. In some cases, this type of disorder can cause lifetime threats of complications.

Above mentioned diseases are all different from central core disease but some people confuse them with the above three diseases.

How to diagnosis central core disease

  • Central core disease can be diagnosed through special clinical measures or it can be detected through physical examination by finding family information about this disease and by a special type of diagnostic tests.
  • Some disorders can be found only at the time of the first years of his/her life like during childhood due to specific type muscular abnormalities.
  • Central core disease can also be diagnosed through various blood test and a specific process called electromyography or by the study of nerve conduction velocity and through the biopsies of muscle.
  • During the study of nerve conduction velocity motor neuron is electrical to study a nerve ability of conduction and the speed of the conduction of nerve impulses.
  • Another common type of treatment of this disorder is the elimination of damaged tissue samples to study it microscopically by using the special techniques of histochemistry. This type of microscopic study affected or distorted areas of the muscle fiber.
  • Advanced imaging techniques also been a great process of technique to find the central core disease. It can detect the particular abnormalities which can occur especially by this disease.
  • This kind of disorder is detected by one more method by the microscopic study of the muscle fiber in which this disorder can be diagnosed through observing the muscle fiber in affected person muscle fiber lack enzymes in the surrounding. These enzymes are the most important content of the muscle fiber because these fibers provide a special types of protein that are important for the chemical activity in muscles which provide the muscle tone muscle contraction and relaxing which provide the active movement to the muscle.
  • Infected genes present in an individual determine the condition of the patients and it also determines that it will transfer into the offspring or not.
  • This disease mostly affected the female body at the time of pregnancy. Newborn has the infected genes of the diseased female. The disease leads to the death of the patient.
  • These kinds of diseases spread through  sexual contacts, through blood transformation, and different blood contacts during the blood tests, etc.

Treatments of central core disease:

  • Different treatments are used for the different types of central core disease.
  • The first common treatment of this disease is  a special type of therapy that can be used to cure the blockage of muscle movements.
  • In children in the case of floppiness can be cured by providing special support to particular areas of the trunk and head or by providing the infant proper seating. During this treatment, tube feeding is essential to provide the essential nutrients which provide the chemical energy to muscle activity.
  • Scientists are working on inventing die different techniques for the treatment of this disease. Both scientists and doctors use different methods for the treatment of different diseases.
  • In most cases, the disorder is treated with the help of different therapies but the treatment of the genetically transmitted disease can only be possible with the help of gene transplantation ( it is a technique in which infected genes replace with the normal gene).
  • The standard way to cure this disease is to follow the guidelines of the treatment procedure to save the patient from this type of disease.
  • Radiotherapy is another tool to cure this disease but it has some negative effects as laser light beam may also damage the normal cells of the body.

Another technique to cure this disease is orthopedic techniques. In this type of treatment specific braces and devices are used to prevent skeletal abnormalities.

After these treatments parents are advised to handle the infant properly, performs the specific exercise with an infant, or perform special stretching of the muscle.


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