With increasing muscle weakness in adulthood, a neurologist should be consulted to rule out myotonic dystrophy type 2. This is especially true if there are additional complaints such as cardiac arrhythmias or thyroid disorders. Further synonyms for this disease are: PROMM, DM2 and Ricker's disease.

What is myotonic dystrophy type 2?

The myotonic dystrophy type 2 has a number of alternative names, but they relate to the same disease. In addition to the abbreviation DM2, the terms proximal myotonic myopathy (PROMM) or Ricker's disease are used in the literature.

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 a muscle weakness that occurs with a delayed muscle relaxation of the thigh and hand muscles after a previous tension.

The muscle weakness is slowly progressing and pronounced especially in the pelvic girdle and in the shoulder area. Many patients have pulling muscle pain, especially when climbing stairs or getting up. A number of other conditions may additionally occur in type 2 myotonic dystrophy. These include the cataracts and diseases of the heart muscle as well as disorders of the thyroid function as well as diabetes and the impairment of fertility.

causes

The cause of type 2 myotonic dystrophy is a gene defect on the third chromosome. The sequences of the four bases are more pronounced here than in the normal case. The inheritance is autosomal dominant, whereby in one affected parent half of the children inherit the genetic defect, while the other half receives the healthy genetic material.

The disease occurs approximately between the 16th and the 50th year of life. Unlike type 1 disease, type 2 myotonic dystrophy does not exacerbate symptoms from one generation to the next.

Symptoms, complaints & signs

The myotonic dystrophy type 2 is characterized by a similar symptomatology as the myotonic dystrophy type 1. The main feature is the greatly delayed muscle relaxation in older age. This manifests itself in an increasing [[stiff joints (joint stiffness) and weakness of the musculature. It comes to disturbed movements and muscle pain.

In the context of the disease, a cataract very often occurs. The risk of developing diabetes mellitus is greatly increased. Cardiac arrhythmias are also very often observed. Since the testosterone level is too low, it can also lead to testicular atrophy. The ability to walk is usually impaired only in older age. #

Overall, the course of myotonic dystrophy type 2 is much more benign than in myotonic dystrophy type 1. Although it is a genetic disease, the first symptoms always begin only in adulthood. A congenital form of the disease as in myotonic dystrophy type 1 does not exist here. Mental and physical developmental disorders do not occur.

However, the lens opacity and diabetes mellitus can often be diagnosed early. Unlike myotonic dystrophy type 1, there is no anticipation here. This means that when the disease is inherited, the symptoms do not advance to earlier life years. Instead of a cure of the disease, however, only a mitigation of the symptoms is possible.

Diagnosis & History

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

After taking the medical history and a physical examination, an electromyogram (EMG) can provide the first evidence of the disease. If the first symptom is a cataract or cardiac arrhythmia, the patient must be referred by the ophthalmologist or the internist for further diagnosis to the neurologist.

A targeted genetic test can, especially in the case of a corresponding family history, ensure the diagnosis of type 2 myotonic dystrophy even before the onset of symptoms. It is a blood test, which is paid by the health insurance. The course of the disease is very different. The later the first symptoms occur in the affected person, the slower the progression of type 2 myotonic dystrophy is generally to be expected.

complications

Through this disease sufferers suffer from various ailments that can make everyday life significantly more difficult. First and foremost there is a strong muscle atrophy and pain in the muscles. These pains can also occur in the form of rest pain, leading to sleep problems at night, leading to depression or other mental health problems.

Furthermore, the load capacity of the patient also drops significantly and there is a clouding of the eye lens and thus possibly also a cataract. The complaints of the eyes negatively influence the everyday life of the patient. Furthermore, the disease leads to heart problems, so that the patient can die in the worst case of a heart death. The life expectancy of the affected person is significantly reduced by this disease.

As a rule, the treatment does not lead to further complications. The discomfort of the eyes can be resolved relatively well and easily, so that those affected can usually see again. Other complaints are treated by surgery or by various therapies. As a rule, there are also no special complaints.

When should you go to the doctor?

A doctor's visit should take place as soon as there is a weakening of the muscle power. Low physical performance or a decrease in exercise potentials are signs of the body for an existing condition. A doctor should be consulted as soon as the symptoms persist for a long time or increase in intensity. Pain in the musculature, which is not based on a short-term overuse or one-sided posture, should be clarified by a doctor.

If the person suffering from disturbances of mobility or abnormalities of the general movement, a doctor is needed. In case of delays or peculiarities of the development of a adolescent adolescent, there is cause for concern. A doctor's visit is necessary as soon as there are strong differences of the affected person in direct comparison with the possibilities of a peer. A reduction in walking ability, gait uncertainty or an increased risk of falling and accidents should be discussed with a doctor.

Irregularities of the heart rhythm as well as impairments of the sight are further signs of a present health disorder, which must be examined and treated. If habitual sports activities can no longer be carried out, consultation with a doctor is required. If it comes in addition to the physical incongruity to a mental stress, a doctor's visit is also advisable. In the case of behavioral problems, mood swings and depressive tendencies, the person concerned needs medical help.

Treatment & Therapy

For myotonic dystrophy type 2, there is currently no direct drug therapy. The treatment is therefore geared to the symptoms occurring and should mitigate the adverse effects.

These include above all physiotherapy and other physiotherapeutic applications against muscular complaints as well as medications for the treatment of diabetes and possible thyroid disorders and cardiac arrhythmias.

Most patients have limited muscular functions, as the fine motor skills and sensations in the limbs are not impaired in this disease. Also when chewing and swallowing, there are no impairments. The cataract can be eliminated by a mostly outpatient surgery.

Local anesthesia poses no problem for the patient. However, in case of planned general anesthesia, the anesthesiologist must be informed about the existing myotonic dystrophy type 2 in order to be able to select the medication accordingly during the anesthesia.

Outlook & Forecast

The prognosis for myotonic dystrophy type 2 is mixed. Above all, it seems problematic that the disease can not be cured. The cause is a genetic defect. Doctors can only try to relieve symptoms that occur. In contrast, the disease occurs only in old age. The muscle weakness is usually less pronounced compared to the myotonic dystrophy type 1.

Nor is it according to current knowledge with mental limitations. The fine motor skills are retained. With appropriate therapy and physiotherapy, most of the symptoms can be turned off. Myotonic dystrophy type 2 can contribute to a shortening of the lifetime. Often, a heart problem is the trigger for premature death.

The disease is very rare. A person of 100, 000 inhabitants suffers from it. An accumulation usually occurs in families. The myotonic dystrophy type 2 is inherited. Accordingly, the probability of a possible illness as a senior increases accordingly, as far as the muscle weakness was present in other family members. The best chances of a long absence from symptoms arise when the myotonic dystrophy type 2 is treated early by appropriate therapies.

prevention

Since type 2 myotonic dystrophy is a genetic disease, there are no direct preventive measures. However, a family history should include a genetic test for this condition as it can be inherited. Possible complaints of type 2 myotonic dystrophy can be better identified and treated by a confirmed diagnosis. Even the patient can better deal with the partially diffuse complaints by the clear diagnosis.

aftercare

Follow-up is not possible with type 2 myotonic dystrophy. The disease is not treatable and sufferers can only go to inpatient treatment. During these inpatient stays, patients should learn how to maintain as much autonomy as possible despite their physical limitations.

Outpatient therapy and inpatient rehabilitation are adapted to the individual symptoms of the patients. With patient therapy and occupational therapy exercises, patients train their muscles to maintain their mobility as long as possible. Speech therapists should help those affected to improve their language or to re-learn. Because the illness can in many cases also cause psychological suffering such as depression, psychologists and social workers are available for the patients.

The scope of the exercises depends on the physical and mental condition. The exact tuning of the right physical stress is difficult. On the one hand muscles and joints are to be trained. On the other hand, patients should not overexert themselves to avoid worsening their symptoms.

Inpatient stays usually take between four and six weeks. Afterwards, patients can receive regular physiotherapy or occupational therapy in their environment. But it is also possible to repeat the inpatient stay.

You can do that yourself

In the case of the disease self-help aims mainly at improving the existing quality of life. This primarily includes the preservation of mobility, self-employment and manpower. Physiotherapy enables those affected to maintain and improve the functions of individual muscles and strengthen their muscles. In case of difficulty swallowing or speech impairments, a speech therapist can alleviate the symptoms and exert suffering through targeted exercises. In case of problems with fine motor skills, ergotherapists help with targeted exercises to improve them again or to compensate them with replacement movements.

Since it is a genetic disease, it is important to inform the relatives about possible symptoms that can exclude or diagnose the disease by means of a genetic test

Some medications can lead to worsening of the disease. Therefore, it is helpful to carry a muscle emergency card with you. This can be requested, for example, from the German Society of Muscular Diseases. This can be actively presented to new doctors and helps passively in accidents by the rescue service receives all the necessary information and informs the attending physicians. Especially in case of general anesthesia, the anesthetist must take care and use compatible therapeutics.

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

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