ID:
1128
Myotonic dystrophy syndrome (MD)
Method:
Sanger Fragment-Capillary electrophoresis method
Full name:
Myotonic dystrophy syndrome (DM) - Steinnert's disease
Sample Type:
Sample quantity:
Sample container:
Blood
5 ml
A tube with a purple cap
Myotonic dystrophy (DM) is a muscular dystrophy with damage to various organ systems that occurs in children and is also common in adults.
Women with DM have high rates of spontaneous abortion and stillbirth.
The most noticeable feature is the presence of variable clinical signs. In order to facilitate clinical diagnosis, patients can be grouped into 3 groups:
1. Minimal: The main clinical sign is cataract. There may be no neurological symptoms, but mild symptoms appear in middle or older age.
Cataract is the most consistent sign of DM in extramuscular damage.
2. Major DM: Characterized by progressive muscle weakness and progressive muscle wasting along with myotonia (myotonia is the inability of a muscle to relax due to repetitive, spontaneous discharges).
Delayed release of hands after hand greeting may attract attention in these patients.
Myotonia is not noticed by many patients or is evaluated as muscle fatigue. Along with a general weakness of the face, ptosis may develop.
In individuals with severe disease, muscle weakness can progress to immobility. Mental function disorders can appear from an early age.
3. Congenital DM: Symptoms appear at birth or in utero. Shortness of breath, hypotonia, developmental delay are determined.
Weakness of facial muscles, hypotonia, retardation of motor development, mental retardation, feeding difficulties, clubfoot are observed.
In the late stages of pregnancy, hydraminosis and a decrease in fetal mobility are observed.
If the child passes the neonatal period, the muscle tone increases a little, but there is a delay in development.
- Hyperactivity
- Developmental delay
- Lack of attention
- Behavioral problems