Myotonic dystrophy

1. Myotonic dystrophy Py : Jehad abdullah ali

2. To find out what is the Muscular Dystrophy To find out what is the Myotonic dystrophy To learn symptoms of Myotonic dystrophy To be know how to manage the Myotonic dystrophy

3. Muscular Dystrophy a group of hereditary progressive diseases. Muscular Dystrophy affects muscular strength and action

4. Muscle Fibers Muscles are made of bundles of fiber (cells). A group of independent proteins along the membrane surrounding each fiber helps to keep muscle cells working properly. When one of these proteins, dystrophin, is absent the result is MD

5. Myotonic dystrophy

6. introduction Myotonic dystrophy is part of a group of inherited disorders called muscular dystrophies. It is the most common form of muscular dystrophy that begins in adulthood. Myotonic dystrophy is an inherited disorder of muscle function. There are two major types of myotonic dystrophy: type 1 and type 2

7. How common is myotonic dystrophy? affects at least 1 in 8,000 people worldwide. The prevalence of the two types of myotonic dystrophy varies among different geographic and ethnic populations. In most populations, type 1 appears to be more common than type 2. However, recent studies suggest that type 2 may be as common as type 1 among people in Germany and Finland.

8. SYMPTOMS OF MYOTONIC DYSTROPHY The symptoms of myotonic dystrophy vary greatly from person to person

9. 1-Myotonia Delayed relaxation of a muscle after an initial contraction. Myotonia is most evident in the hands, and results in difficulty releasing grip and a feeling of muscle stiffness Myotonia can be diagnosed by an electromyogram (EMG)

10. 2- Muscle weakness The muscles of the face are often the first to show weakness, resulting in a lack of facial expression or mask-like appearance of the face (myotonic facies) slurred speech (dysarthria) droopy eyelids

11. mask-like appearance of the face (myotonic facies) with droopy eyelids

12. Muscle weakness cont’ The muscles of the lower leg, ankle, foot, forearm and hand are usually the next group of muscles to show weakness. This lead to difficulty with walking, and with finger and hand movements. The muscles involved with breathing and swallowing may become weak over time

13. 3- cloudiness of the lens of the eye The majority of persons with myotonic dystrophy will eventually develop cataracts (cloudiness of the lens of the eye) that cause vision to become blurry. Cataracts are often the first recognized sign of DM. They can occur in persons without DM, especially in the elderly. In DM however, cataracts develop at a younger age, usually in the forties or fifties. Cataracts are treatable through surgery

14. cataracts

15. 4- Abnormalities of heart rhythm (arrhythmia) *Other symptoms seen in some but not all persons with DM

16. DM described DM is described as being mild, classical or congenital based on the severity and age of onset of symptoms-At this time, there is no treatment or cure that can prevent the symptoms of myotonic dystrophy-

17. SYMPTOMS OF MAYOTONIC Dystrophy Type 2 The symptoms of DM2 are very similar to those of DM, and both conditions are inherited in the same way. The main difference between them is at the genetic level. The genetic change that causes DM2 is different from DM

18. INHERITANCE OF DM

19. DM is inherited in an autosomal dominant pattern DM is caused by a change or mutation in a specific gene, called the myotonic dystrophy protein kinase (DMPK) gene, which is essential for normal muscle and body function.

20. Every person has 23 pairs of chromosomes, which contain two copies of each gene. The DMPK gene is gif myotonic dystrophy protein kinase and located on chromosome number 19. The DMPK gene is located on the long (q) arm of chromosome 19 at position 13.3. More precisely, the DMPK gene is located from base pair 45,769,708 to base pair 45,782,556 on chromosome 19.

21. The genetic change that causes DM is called a CTG repeat expansion CTG represents a specific pattern of DNA. It is normal to have between 5 to 37 CTG repeats in both copies of the DMPK gene.

22. DM2 is also inherited in an autosomal dominant pattern. The gene for DM2 is CNBP (also known as ZNF9) gif nucleic acid binding protein , localized to chromosome number 3. The CNBP gene is located on the long (q) arm of chromosome 3 at position 21. More precisely, the CNBP gene is located from base pair 129,167,814 to base pair 129,183,966 on chromosome 3

23. Non-molecular testing Electromyography (EMG). A needle electrode placed in the muscle of an affected adult records myotonic discharges Serum CK concentration. Serum CK concentration may be mildly elevated in individuals with DM1 with weakness, but is normal in asymptomatic individuals.

24. Molecular Genetic Testing Molecular genetic testing detects mutations in nearly 100% of affected individuals.

25. Management Treatment of manifestations management of pain consultation with a cardiologist for symptoms or ECG evidence of arrhythmia Surveillance eye examination every two years attention to nutritional status