Myotonic dystrophy is a serious genetic disorder. This chronic condition is characterized by slow progression and typically leads to wasting of muscles, cataract, heart conduct defects, certain endocrine changes and myotonia. The symptoms of myotonic dystrophy may occur at any age.
Myotonic Dystrophy Clinical Characteristics
As for ocular changes, a person suffering from myotonic dystrophy may develop cataract at any age. Along with cataract there may be iridescent opacities in the overlying cortex. Even though the mentioned changes may be of diagnostic importance, they only occur in half of all patients. These specific changes typically affect both eyes. Ptosis is another clinical characteristic of the disease and results from muscle weakness of the eyelids. Some patients even end up with ophthalmoplegia. Muscle weakness and inappropriate closure of the eyes may eventually lead to keratitis.
As for systemic changes associated with the disorder there are generalized weakness, hypotonia, mental retardation as well as respiratory insufficiency.
Not all patients develop the same symptoms and signs of myotonic dystrophy. For instance, people with mild form of the disease may only suffer from cataract and develop mild myotonia living normally and without any special or permanent treatment. More severe or complex cases of the disease are additionally characterized by noticeable and rather extensive muscle weakness and muscle wasting. These individuals also deal with cardiac conduction defects. Severe myotonic dystrophy inevitably leads to disability which commonly occurs in adulthood.
Apart from the previously mentioned patients may additionally complain about deep muscle pain. Muscle weakness initially affects distal muscles and then spreads towards facial muscles. Proximal muscle weakness is a cause of dysphagia and dysarthria. Some patients may suffer from age-related cognitive decline and it is also possible for them to lose their hearing.
Finally, men suffering from myotonic dystrophy may have gonadal atrophy which subsequently affects their reproductive fitness. Men may also be bald.
Causes of Myotonic Dystrophy
As it has already been mentioned, myotonic dystrophy is a genetic disorder, inherited in an autosomal dominant pattern. Scientists have managed to identify the damage to the DNA which is in a form of a trinucleotide (CTG) repeat expansion in a region of the DMPK gene. The severity of the condition depends on the actual number of repeats of the trinucleotide.
Myotonic Dystrophy Treatment Options
The condition is not curable. However, there are some treatments available which may or may not bring the symptoms and signs patients have to deal with under control. Pain management is treated by a variety of pharmaceutical agents but many of them simply fail to provide with desirable effects. Such patients are not supposed to take statins, cholesterol reducing drugs. Finally, many of them may benefit from physical therapy.
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