How does myotonic dystrophy affect swallowing?

How does myotonic dystrophy affect swallowing?

Problems with chewing and swallowing are known as ‘dysphagia. ‘ In Myotonic Dystrophy, changes usually occur as a result of weakness in the mouth and/or throat muscles. Weakness in the lips, tongue and throat can cause problems with chewing, clearing the mouth and clearing food and drink from the throat.

What part of the body does myotonic dystrophy affect?

Myotonic muscular dystrophy is a common multi-system disorder that affects the skeletal muscles (the muscles that move the limbs and trunk) as well as smooth muscles (the muscles that control the digestive system) and cardiac muscles of the heart.

What respiratory dysfunction is commonly seen in myotonic dystrophy?

Sleep-disordered breathing with a prominent central apnea component and nocturnal hypoxemia has been shown to be common in myotonic dystrophy. Diaphragm weakness is common in DM and contributes to hypoventilation. Daytime hypercapnia has also been observed (57).

What causes DM1?

DM1 is caused by a change or alteration in the myotonic dystrophy protein kinase (DMPK) gene. DM2 is caused by a change or alteration in the nucleic acid-binding protein (CNBP) gene; this gene is also called the ZNF9 gene.

Can muscular dystrophy cause swallowing problems?

Oculopharyngeal muscular dystrophy (OPMD) is a rare genetic condition. It causes weakness in the muscles around the upper eyelids and part of the throat called the pharynx. The condition may affect vision and cause problems swallowing and talking.

Who is most likely to get myotonic dystrophy?

DM is the most common muscular dystrophy among adults of European ancestry. The prevalence of DM is about 10 cases per 100,000 individuals. Among nonwhite populations, DM1 is uncommon or rare. Reports from Europe suggest the prevalence of DM2 is similar to that of DM1.

Does myotonic dystrophy affect the lungs?

Respiratory muscle weakness People with myotonic dystrophy commonly have significant breathing problems that can lead to respiratory failure or require mechanical ventilation in severe cases.

What causes throat muscles to weaken?

Some of the causes of esophageal dysphagia include:

• Achalasia.
• Diffuse spasm.
• Esophageal stricture.
• Esophageal tumors.
• Foreign bodies.
• Esophageal ring.
• GERD .
• Eosinophilic esophagitis.

How is myotonic dystrophy more than just a muscle disease?

Myotonic dystrophy (DM) is more than just a muscle disease. Both DM1 and DM2 affect several aspects of physical and mental functioning to varying degrees and with variable scope. The following sections discuss different problems that can occur, although many people with the disease have only some of them.

Why does myotonic dystrophy affect breathing and swallowing?

Breathing and swallowing muscle weakness. Respiratory muscle weakness does not appear to be a common feature of DM2. However, in DM1, respiratory muscle weakness can affect lung function and deprive the body of needed oxygen.

How did the Myotonic Dystrophy Foundation get started?

Kate first engaged with the foundation in 2019 after her close friends were diagnosed with DM. After learning more about our mission, she was inspired to help advance care and a cure. MDF advocates from across the country did their part as part of another highly successful annual Rare Disease Day celebration.

Is there a cure for myotonic dystrophy ( DM )?

Most of these symptoms can be lessened with treatment. See Medical Management for information on current therapies. Click on the individual subtype to find more information on specific signs and symptoms: Looking for more information, support or ways to get involved?

How is myotonic dystrophy inherited from the mother?

Inheritance. This means that one copy of the altered gene in each cell of the body is enough to cause symptoms of the disease. We inherit one copy of each gene from our mother and the other from our father. Therefore, when a person with myotonic dystrophy goes on to have children, there is a 50% chance that each child will have myotonic dystrophy.

Are there any anaesthetic problems in myotonic dystrophy?

ANAESTHETIC PROBLEMS IN MYOTONIC DYSTROPHY A Case Report and Review of the Aberdeen Experience Comprising 48 General Anaesthetics in a Further 16 Patients L. M. ALDRIDGE Myotonic dystrophy (dystrophia myotonica) is an autosomal dominant disease. It exhibits almost complete penetration but great variability of

How are laboratory tests used to diagnose myotonic dystrophy?

There are several laboratory tests that can be used to clarify the clinical diagnosis of myotonic dystrophy. One test, called electromyography (EMG), involves inserting a small needle into the muscle. The electrical activity of the muscle is studied and usually shows characteristic patterns of myotonic dystrophy. [3]

Is there a long-term prognosis for myotonic dystrophy?

The long-term outlook (prognosis) for each person with myotonic dystrophy (including life expectancy) may depend on the type of myotonic dystrophy and the specific medical problems present. Myotonic dystrophy is a progressive disease, meaning that symptoms worsen as a person gets older.