What is the difference between myotonia and Paramyotonia?
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What is the difference between myotonia and Paramyotonia?
In paramyotonia, muscle stiffness is brought on by repeated muscle contraction or exercise, as opposed to myotonia, in which a warm-up period of repeated muscle contraction alleviates the muscle stiffness. Thus, the designation is paradoxical, or paramyotonia.
How common is Paramyotonia congenita?
Paramyotonia congenita is an uncommon disorder; it is estimated to affect fewer than 1 in 100,000 people.
What is Thomsen’s disease?
Two main forms of myotonia congenita have been described: Thomsen disease and Becker disease. In individuals with Thomsen disease, symptoms and findings such as myotonia, associated muscle rigidity, and abnormal muscle enlargement may become apparent from infancy to approximately two to three years of age.
What are the types of myotonia?
The two major types of myotonia congenita are known as Thomsen disease and Becker disease. These conditions are distinguished by the severity of their symptoms and their patterns of inheritance.
What causes myotonic discharges?
Common triggers include cold, stress and exercise, and symptoms can worsen during pregnancy and menstruation. Most demonstrate a “warm-up” phenomenon, where myotonia improves with repeated action. In contrast, paradoxical myotonia or paramyotonia worsens with repeated use.
What type of muscle cell is affected by myotonia congenita?
Myotonia congenita is an inherited disorder of skeletal muscle in which muscle stiffness is the only complaint. Autosomal dominant and autosomal recessive forms are related to different mutations of the skeletal muscle chloride channel gene on chromosome 7.
What are the symptoms of myotonia?
What are the symptoms of myotonia?
- Abnormal appearance of your muscle, such as an increase or decrease in muscle size.
- Fatigue.
- Muscle stiffness that gets better with activity, called a warm-up phenomenon. People with paramyotonia congenita and myotonic dystrophy type 2 don’t have this symptom.
- Pain.
- Weakness.
What is myotonic reaction?
Myotonia is a medical term that refers to a neuromuscular condition in which the relaxation of a muscle is impaired. It can affect any muscle group. Repeated effort will be needed to relax the muscle, although the condition usually improves after the muscles have warmed-up.
What kind of disease is myotonia congenita?
Myotonia congenita is an inherited neuromuscular disorder characterized by the inability of muscles to quickly relax after a voluntary contraction. The condition is present from early childhood, but symptoms can be mild.
What organelle is affected by myotonia congenita?
| Name of Organelle | Patient/Disease |
|---|---|
| Plasma Membrane | Patient #5 Rosanna Myotonia Congenita |
| Lysosome | Patient #6 Harvey Tay-Sachs |
| Mitochondria | Patient #7 Kathy Decreased Cytochrome C Oxidase/Myopathy |
| Golgi | Patient #8 Jim and Lucy Achondrogenesis 1a |
What kind of mutation is myotonia congenita?
Myotonia congenita belongs to the group of non-dystrophic myotonia caused by mutations of CLCN1gene, which encodes human skeletal muscle chloride channel 1. It can be inherited either in autosomal dominant (Thomsen disease) or recessive (Becker disease) forms.
What myotonic means?
Myotonia is a rare condition where your muscles are unable to relax after they contract. It can impact muscles throughout your body. Gene changes cause myotonia, and this condition can be passed down through families. Symptoms vary by the type of myotonia.
What causes myotonic dystrophy?
Myotonic dystrophy is caused by genetic changes (changes) in the DMPK gene or the CNBP (ZNF9) gene depending on the specific type of Myotonic dystrophy. The disease is inherited in an autosomal dominant manner.
What is the difference between myotonic dystrophy and muscular dystrophy?
Muscular dystrophy (MD) refers to a group of nine genetic diseases that cause progressive weakness and degeneration of muscles used during voluntary movement. Myotonic dystrophy (DM) is one of the muscular dystrophies. It is the most common form seen in adults and is suspected to be among the most common forms overall.
How is myotonia congenita caused?
Myotonia congenita is caused by changes or mutations in a gene called CLCN1. The CLCN1 gene is responsible for shutting off electrical signals from neurons to the membrane of skeletal muscle cells. A mutation in this gene results in increased signals to the skeletal muscles.
What are the effects of myotonia congenita?
Myotonia congenita is a genetic disorder that causes muscle stiffness and muscle growth. Myotonia congenita may be one of two types, Becker disease or Thomsen disease. Symptoms may include difficulty swallowing, enlarged muscles and weakness.
What are the two types of myotonic dystrophy?
Myotonic dystrophy (DM) includes two major types — DM1 and DM2 — both caused by genetic defects. They result in multisystem disorders characterized by skeletal muscle weakness and myotonia (difficulty relaxing muscles after use), cardiac abnormalities, cataracts, and other abnormalities.
What is the myotonic dystrophy?
Myotonic dystrophy is characterized by progressive muscle wasting and weakness. People with this disorder often have prolonged muscle contractions (myotonia) and are not able to relax certain muscles after use. For example, a person may have difficulty releasing their grip on a doorknob or handle.
