How do you diagnose distal muscular dystrophy?
How is distal muscular dystrophy diagnosed?
- Blood tests for muscle enzymes such as creatine kinase.
- DNA blood tests for known DD changes.
- Muscle biopsy to look for the specific problem in the muscle cells.
- Electromyography to measure the electrical activity of the muscles.
- MRI or ultrasound tests to look at the muscles.
What can mimic muscular dystrophy?
The diseases most frequently mistaken for muscular dystrophy were polymyositis and the syndrome of “benign hypotonia.” Polymyositis, with its protean manifestations and variable course, may mimic all of the forms of muscular dystrophy so closely that differentiation becomes especially difficult.
What is the incidence of distal muscular dystrophy?
Welander distal myopathy occurs with greater frequency in Sweden where the prevalence is estimated to be 1 in 1,000 individuals. Approximately 220 cases of IBM2 have been identified in the medical literature. The muscular dystrophies as a whole are estimated to affect 250,000 individuals in the United States.
Are there any differential diagnoses for distal myopathy?
Additional forms of muscle disease (myopathy) may be considered differential diagnoses for distal myopathy including metabolic myopathies such as Pompe disease; inflammatory myopathies such as dermatomyositis or polymyositis; and distinct congenital myopathies such as nemaline myopathy.
What is the medical term for distal muscular dystrophy?
General Discussion. Distal myopathy (or distal muscular dystrophy) is a general term for a group of rare progressive genetic disorders characterized by wasting (atrophy) and weakness of the voluntary distal muscles.
What kind of muscle weakness does distal myopathy cause?
Certain muscles of the hands and feet (intrinsic muscles and long extensors) and certain muscles of the fingers and toes (extensors) are predominantly affected. Muscle weakness and degeneration ranges from mild to severe. The progression of muscle weakness is slow.
Is the inheritance of distal myopathy autosomal dominant or recessive?
Inheritance is autosomal dominant or recessive. The distal myopathies belong to a larger group of disorders known as the muscular dystrophies. The muscular dystrophies are characterized by weakness and degeneration of various voluntary muscles of the body.
What are the treatment options for distal muscular dystrophy?
Unfortunately, there’s no cure for distal muscular dystrophy. However, the right treatment may help reduce your symptoms. One common treatment option is physical therapy, which helps keep muscles and joints strong and flexible and may increase range of motion.
What lab tests are used to diagnose muscular dystrophy?
A number of tools can be used to diagnose muscular dystrophy, including genetic testing, blood tests that identify the signs of muscle damage, electromyography ( EMG ), muscle biopsy, electrocardiogram ( ECG ), and/or echocardiogram (ECHO). Laboratory studies can confirm the suspected diagnosis.
What does Distal muscular dystrophy mean?
Distal muscular dystrophy (DD) is a group of rare diseases that affect your muscles (genetic myopathies). DD causes weakness that starts in the lower arms and legs (the distal muscles). It then may gradually spread to affect other parts of your body.
What is muscular dystrophy and symptoms?
Typically, the first symptom of distal muscular dystrophy (DD) is weakness in the distal muscles — those farthest away from the hips and shoulders such as those in the hands, feet, lower arms or lower legs. With time, other muscle groups may become affected as well.