Channelopathy

A channelopathy is a type of disease that results from an abnormalitiy in the flow of certain ions across muscle cell membranes. The particular channelopathy that I chose to do more research on was myotonia congenital specifically the chlorine channel disease, Beckers myotonia. Chloride channels help to regulate the flow or exchange of ions across certain cellular membranes. Chloride channels play an important role in regulating the skeletal muscle membranes electric response to stimuli. CLCN1 is a gene that is responsible for the normal functioning of certain chloride channels in voluntary skeletal muscle cell membranes. Mutations of CLCN1 results in reduced numbers or insufficient functioning of chloride channels. This mutation is responsible for shutting off the electrical excitation in the muscles, which causes impaired ability to maintain normal muscle excitability. Some research also states that abnormal sodium channel activation may play a role in the hyperexcitability associated with myotonia congenital.
Beckers myotonia is inherited as an autosomal recessive trait where the individual will inherit the same abnormal gene for the same trait from each parent. It has been reported that in order for this to happen, some of the parents may have been closely blood related. It has also been reported to
appear in multiple siblings of unaffected parents.
Beckers myotonia is the most common form of myotonia congenital.
It most commonly appears between the ages of four and twelve. It is a neuromuscular disorder that doesn’t allow for the muscles to relax quickly after a voluntary contraction. The individual will experience temporary muscle attacks that result in weakness brought on by movement after a period of rest. It is initially apparent in the muscles of the legs. As the disease continues to progress it will affect the muscles of the arms, trunk and face. This weakness may become permanent over time. The patient may also present with abnormal muscle enlargement, such as the appearance of a body
builder.
Treatment methods for Beckers myotonia include an emphasis on early intervention. Patients can live long and productive lifestyles with this disease, but may experience difficulties with muscle stiffness as they try to walk, grasp, chew, or swallow. Treatment plans have been developed by therapist that focus on the ultimate goal of resolving those stiff muscles by implementing exercise routines or light movement especially after resting. Physical therapists have been used to help improve the muscle function, while occupational therapists work on specific activities and functions in areas such as activities of daily living, recreation, employment, etc. There has been some success with medications that help to eliminate stiffness that have also been implemented into the treatment plan for this disease.