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Neuromuscular Disorders

They are a group of diseases that, while having a great heterogeneity in clinical symptomatology, all have as a common feature muscle weakness. The majority involves genetic disorders, ie diseases caused by DNA damage and therefore can be inherited to more than one person in the same family. It is estimated that the frequency of genetic neuromuscular diseases is about 1: 3000 individuals, although the large number of diseases and the difficulty of diagnosis does not allow finding the accurate frequency in the general population.

Prior to detecting mutations with DNA analyzes, the diagnosis was mainly based on the clinical symptoms of patients or on painful and time-consuming examinations (eg muscle and nerve biopsy and electromyography), and prevention (prenatal control and vector detection) was impossible. Nowadays, genetic testing is applied for many genetic neuromuscular disorders with DNA analysis isolated from peripheral blood of patients, but requires specialized examinations and laboratories.

 

Types of disorders

Muscular Dystrophies 

Myopathies

 

Motor Neuron Diseases

 

Mitochondrial Myopathies

Ion Channel Diseases

Neuromuscular Junction Diseases

Peripheral Nerve Diseases

Other Neuromuscular Disorders

Muscular Dystrophy Association