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What does the abbreviation DM2 stand for?

Posted on May 27, 2022 by usvsukenglish

If muscle weakness increases in adulthood, a neurologist should be consulted to rule out type 2 myotonic dystrophy. This is especially true if there are additional symptoms such as cardiac arrhythmia or thyroid disease. Other synonyms for this disease are: PROMM, DM2 and Morbus Ricker.

What is myotonic dystrophy type 2?

Myotonic dystrophy type 2 has a number of alternative names, but they refer to the same disease. In addition to the abbreviation DM2, the terms proxymale myotonic myopathy (PROMM) or Ricker’s disease are used in the literature. See AbbreviationFinder for abbreviations related to DM2.

It is a rare disease that has been known in Germany for about 12 years and was first described by Professor Kenneth Ricker. Characteristic of the disease is muscle weakness, which occurs with delayed muscle relaxation of the thigh and hand muscles after previous tension.

The muscle weakness is slowly progressive and particularly pronounced in the pelvic girdle and shoulder area. Many patients have pulling muscle pain, especially when climbing stairs or standing up. A number of other symptoms can also occur in type 2 myotonic dystrophy. These include cataracts and diseases of the heart muscle but also disorders of the thyroid function as well as diabetes and impaired fertility.

Causes

Type 2 myotonic dystrophy is caused by a genetic defect on the third chromosome. The sequences of the four bases are repeated here more than usual. Inheritance is autosomal dominant, which means that half of the children of an affected parent inherit the genetic defect, while the other half receive the healthy hereditary trait.

The disease occurs between the ages of 16 and 50. Unlike type 1 of this disease, type 2 myotonic dystrophy does not experience an aggravation of symptoms from one generation to the next.

Symptoms, Ailments & Signs

Myotonic dystrophy type 2 is characterized by symptoms similar to myotonic dystrophy type 1. The main feature is the greatly delayed muscle relaxation in old age. This manifests itself in an increasing [[Stiff joints (joint stiffness) and weakness of the muscles. Disturbed movements and muscle pain occur.

Cataracts also occur very frequently as part of the disease. The risk of developing diabetes mellitus is greatly increased. Cardiac arrhythmias are also very often observed. Since testosterone levels are too low, testicular atrophy can also occur. However, the ability to walk is usually only impaired in old age. #

Overall, the course of myotonic dystrophy type 2 is much more benign than myotonic dystrophy type 1. Although it is a genetic disease, the first symptoms always begin in adulthood. There is no congenital form of the disease like myotonic dystrophy type 1. Mental and physical development disorders do not occur.

However, clouding of the lens and diabetes mellitus can often be diagnosed at an early stage. In contrast to myotonic dystrophy type 1, there is no anticipation here either. This means that when the disease is inherited, there is no predisposition of the symptoms to earlier years of life. Instead of curing the disease, however, only an alleviation of the symptoms is possible.

Diagnosis & History

The diagnosis of myotonic dystrophy type 2 is difficult and therefore requires an experienced neurologist.

After taking a medical history and doing a physical exam, an electromyogram (EMG) can provide the first evidence of the disorder. If the first symptom is a cataract or a cardiac arrhythmia, the ophthalmologist or internist must refer the patient to a neurologist for further diagnostics.

A targeted genetic test can secure the diagnosis of type 2 myotonic dystrophy, especially if there is a corresponding family history, even before symptoms appear. This is a blood test that is paid for by health insurance. The course of the disease is very different. The later the first symptoms appear in the affected person, the slower the progression of type 2 myotonic dystrophy can generally be expected.

Complications

As a result of this disease, those affected suffer from various complaints that can make everyday life significantly more difficult. First and foremost, this leads to severe muscle wasting and pain in the muscles. This pain can also appear in the form of pain at rest, leading to difficulty sleeping at night and thus to depression or other psychological problems.

Furthermore, the resilience of the patient decreases significantly and the lens of the eye becomes cloudy and thus possibly also a cataract. The everyday life of the patient is negatively influenced by the visual problems. Furthermore, the disease leads to heart problems, so that in the worst case the patient can die of cardiac death. The life expectancy of those affected is significantly reduced by this disease.

As a rule, there are no further complications during the treatment. The discomfort in the eyes can be solved relatively well and easily, so that those affected can see normally again. Other complaints are treated with the help of surgical interventions or various therapies. Usually, there are no particular symptoms either.

When should you go to the doctor?

A doctor’s visit should take place as soon as there is a weakening of muscle strength. Low physical performance or a decrease in the ability to exercise are signs of the body for an existing disease. A doctor should be consulted as soon as the symptoms persist for a long time or increase in intensity. Muscle pain that is not due to short-term overuse or one-sided posture should be checked out by a doctor.

If the person concerned suffers from mobility disorders or if there are abnormalities in the general movement sequences, a doctor is required. Any delays or peculiarities in the development of a growing adolescent is cause for concern. A doctor’s visit is necessary as soon as there are strong differences between the person concerned and the possibilities of a person of the same age. A reduced ability to walk, unsteady gait or an increased risk of falling and accidents must be discussed with a doctor.

Heart rhythm irregularities and vision problems are other signs of a medical condition that need to be investigated and treated. If usual sporting activities can no longer be carried out, consultation with a doctor is necessary. If, in addition to the physical discrepancies, there is also mental stress, a visit to the doctor is also advisable. In the case of behavioral problems, mood swings and depressive tendencies, the person concerned needs medical help.

Treatment & Therapy

There is currently no direct drug therapy for type 2 myotonic dystrophy. The treatment is therefore based on the symptoms that occur and is intended to alleviate the impairments that occur.

This includes, above all, physiotherapy and other physiotherapeutic applications against muscular complaints as well as medication for the treatment of diabetes and possible thyroid diseases and cardiac arrhythmias.

Most patients are only slightly restricted in their muscles, since fine motor skills and the sensitivity in the limbs do not deteriorate with this disease. There are also no impairments when chewing and swallowing. The cataract can be eliminated by an operation, which is usually carried out on an outpatient basis.

Local anesthesia does not pose a problem for the patient. If general anesthesia is planned, however, the anesthetist must be informed about the existing type 2 myotonic dystrophy in order to be able to select the medication during the anesthesia accordingly.

Outlook & Forecast

The prognosis for myotonic dystrophy type 2 is mixed. The main problem is that the disease cannot be cured. The cause is a genetic defect. Doctors can only try to alleviate the symptoms that arise. In contrast, the disease only occurs in old age. The muscle weakness is usually less pronounced in comparison to myotonic dystrophy type 1.

According to the current state of knowledge, it is also not associated with mental limitations. Fine motor skills are preserved. Most signs can be eliminated with suitable therapy and physiotherapy. Myotonic dystrophy type 2 can shorten life expectancy. A heart problem is often the trigger for an early death.

The disease is very rare. One person in 100,000 suffers from it. There is usually an accumulation in families. Myotonic dystrophy type 2 is inherited. The probability of a possible illness as a senior increases accordingly, insofar as the muscle weakness was also present in other family members. The best chances of long-term freedom from symptoms arise when myotonic dystrophy type 2 is treated early with appropriate therapies.

Prevention

Since myotonic dystrophy type 2 is a genetic disease, there are no direct preventive measures. However, genetic testing for this condition should be considered if there is a family history, as it can be inherited. Possible symptoms of type 2 myotonic dystrophy can be identified and treated in a more targeted manner with a reliable diagnosis. The patient can also deal better with the sometimes diffuse symptoms thanks to the clear diagnosis.

Aftercare

Follow-up care is not possible for type 2 myotonic dystrophy. The disease cannot be treated and those affected can only go to inpatient treatment. During these inpatient stays, the patients should learn how to remain as independent as possible despite their physical limitations.

Outpatient therapy and inpatient rehabilitation are adapted to the individual symptoms of the patient. With medical therapy and ergotherapeutic exercises, the patients train their muscles in order to maintain their mobility for as long as possible. Speech therapists should help those affected to improve their language or to learn it again. Because the disease can in many cases also trigger mental illnesses such as depression, psychologists and social workers are available for the patients.

The extent of the exercises depends on the physical and psychological condition. Precisely matching the right physical load is difficult. On the one hand, muscles and joints should be trained. On the other hand, patients must not overexert themselves in order not to aggravate their symptoms.

Inpatient stays usually last between four and six weeks. The patients can then receive regular physiotherapy or occupational therapy in their area. However, it is also possible to repeat the inpatient stay.

You can do that yourself

In the case of the disease, self-help is mainly aimed at improving the existing quality of life. This primarily includes maintaining mobility, independence and manpower. Through physiotherapy, those affected can maintain and improve the functions of individual muscles and strengthen the muscles in a targeted manner. In the case of swallowing or speech disorders, a speech therapist can alleviate the symptoms and reduce the level of suffering through specific exercises. If there are problems with fine motor skills, occupational therapists can help with specific exercises to improve them or to compensate for them with substitute movements.

Since it is a genetic disease, it is important to inform relatives about possible symptoms that can rule out or diagnose the disease with a genetic test

Some medications can make the condition worse. It is therefore helpful to carry a muscle emergency card with you. This can, for example, be requested from the German Society for Muscle Diseases. This can be actively shown to new doctors and passively helps in the event of an accident by providing the emergency services with all the information they need and informing the treating doctors. In the case of general anesthesia in particular, the anesthetist must be considerate and tolerated therapeutic agents must be used.

The progression of the disease can lead to mood swings and even depression, which can be treated with psychotherapy.

 

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