becker myotonie rugpijn

Becker Myotonia

What is Becker Myotonia

Becker myotonia is an inherited muscle disorder that is usually noticed in childhood or early adulthood. It is characterized by painful muscle stiffness in the skeletal muscles after periods of inactivity or after several minutes of rest.

What distinguishes Becker myotonia is the striking physical appearance of patients, often characterized by a muscular build. However, this condition can be associated with muscle weakness in the torso and face later in life, causing patients to experience difficulty swallowing and a loss of strength in the arms. This aspect of the disease highlights its complexity and underlines the importance of a thorough understanding of the symptoms for effective treatment.

It is important not to confuse Becker myotonia with Becker muscular dystrophy, a different condition with a completely different cause and course. Thomsen myotonia in contrast, may present with similar symptoms, but muscle stiffness is generally less severe. The course of the disease is also different. Thomsen myotonia usually has a stable course with mild symptoms, while Becker myotonia can sometimes be more progressive and increase in severity as the person ages.

Characteristics of Becker Myotonia: 

  • Muscle stiffness and weakness in skeletal muscles 
  • Unstable and frequent falls
  • Patient's athletic physique
  • Warm-up phenomenon 
  • Sensitive to specific anesthetics (S.O.S Card)

01

Muscle stiffness after rest

A characteristic symptom of Becker myotonia is the occurrence of muscle stiffness after periods of rest, such as after waking up or sitting for a long time. This stiffness can make it difficult to move and can last for several seconds to minutes.

02

Delayed muscle relaxation

People with Becker myotonia may experience delayed muscle relaxation when opening their eyes, which can result in a feeling of stiffness around the eyes. In addition, they may have difficulty swallowing while eating, which can affect the enjoyment and convenience of meals. These symptoms highlight the impact of Becker myotonia on daily activities and the importance of understanding and support for people living with this condition.

03

Muscle weakness

Patients with Becker myotonia often experience muscle weakness, especially in the leg muscles. This can lead to difficulties with activities such as climbing stairs, walking or standing for long periods of time.

Treatment of Myotonia Congenita?

Although there is currently no cure for Becker myotonia, several treatments are available to manage symptoms and improve patients' quality of life. An important part of the treatment may be the use of medications, which can help to reduce muscle stiffness and cramping. These medications can reduce the frequency and severity of symptoms, making patients better able to perform daily activities.

In addition to medication, physical therapy can play a valuable role in managing Becker myotonia. Physical therapists can offer specific exercises and techniques to improve muscle strength, mobility and flexibility, as well as strategies to reduce muscle stiffness and reduce the risk of injury.

Assistive devices and adjustments in daily life may also be helpful for some patients. This can range from ergonomic aids to make daily tasks easier, such as adapted cutlery or aids to improve grip, to mobility equipment such as walkers or wheelchairs for people with severe muscle weakness.

Another important aspect of managing Becker myotonia is creating understanding and awareness in society. For many people, a muscle disease is an invisible condition, which can lead to misunderstanding and stigma. Sharing information about Becker myotonia, discussing its impact on daily life and promoting empathy and understanding can help reduce stigma and create a supportive environment for people with this condition. 

Would you like to share your experiences with Becker Myotonia with others? Or are you curious about how people deal with this muscle disease? Then read here experiences with the condition Becker Myotonia

Heredity Thomsen Myotonia

Becker myotonia is an inherited muscle disorder caused by mutations in the CLCN1 gene, located on chromosome 7. This gene encodes the chloride channel 1 protein (CLCN1), which is essential for the regulation of electrical activity in muscle cells by transporting of chloride ions across the cell membrane. When this gene is defective, it leads to reduced permeability of the chlorine channels in the muscle fiber membrane, resulting in delayed muscle relaxation and muscle stiffness, the core symptoms of Becker myotonia.

In terms of heredity, Becker myotonia is transmitted in an autosomal recessive manner. This means that both parents are carriers of the mutated gene, but do not show any symptoms of the disease themselves. If both parents are carriers, each of their children has a 25% chance of inheriting the disease. Children who inherit the mutated gene from both parents will develop the condition, while children who inherit the mutated gene from one parent will be carriers of the condition but will not show any symptoms.

However, it is important to note that the severity of symptoms and the age at which they begin to appear can vary, even between individuals within the same family who share the same genetic mutation. Therefore, genetic counseling may be helpful for families with a history of Becker myotonia to better understand the risk of inheritance and deal with the impact of the condition on future generations.

Experiences with Becker Myotonia

Growing up with Becker myotonia brings several challenges. The temporary muscle stiffness after rest periods can significantly disrupt daily life, from simple actions such as getting out of bed to more active activities such as sports or playing with friends. At school it can sometimes be difficult to physically participate or to sit still for long periods during lessons. There can also be obstacles in relationships, as partners, family and friends may not fully understand what it means to live with Becker myotonia, a muscle disease that remains invisible to many.

Sharing experiences with others facing similar challenges can provide a sense of connection and understanding. By sharing stories about the highs and lows of living with Becker myotonia, people can find support and gain valuable insights into how to cope with everyday challenges

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