LAMA2
WHAT IS LAMA2 AND WHAT DOEA IT MEAN
LAMA2-related muscular dystrophy (LAMA2) or Merosin-deficient congenital muscular dystrophy (MDC1A) is a rare genetic disease. It is caused by mutations in the LAMA2 gene, which leads to a partial or complete absence of the laminin-alpha 2 protein in the muscle fibers. This is why the disease is also known as Merosin-deficient congenital muscular dystrophy.
It affects muscles, nerves and sometimes the brain. It usually manifests itself from birth (severe forms are known as "floppy babies"), but later forms are also known. The clinical picture is characterized by muscular dystrophy, which mainly affects the axial and proximal muscles of the four limbs. Demyelinating neuropathy, i.e. an impairment of peripheral nerve function that further weakens the function of the muscles, especially the distal muscles of the four limbs; abnormalities of the central nervous system that can lead to moderate cognitive deficits and epilepsy. In the most severe forms, there is progressive muscle weakness, joint contractures, respiratory insufficiency, swallowing difficulties and scoliosis also manifest themselves in the course of the disease.
HOW IS THE DIAGNOSIS MADE
Diagnosis is based on the observation of typical clinical symptoms and specific diagnostic tests that reveal changes in skeletal muscle tissue, the peripheral nervous system and the central nervous system. These tests may vary depending on the clinical symptoms and the age of the patient and include creatine kinase enzyme testing in the blood, muscle biopsy to show the absence of merosin protein, electromyography to show the presence of myopathy and neuropathy, and magnetic resonance imaging of the brain to show abnormalities in the brain. In clinically suspected cases, the diagnosis is confirmed by the detection of two pathological mutations in the LAMA2 gene, autosomal recessive inheritance.
HOW IS THE DISEASE TRANSMITTED
The disease is caused by mutations in the LAMA2 gene, which codes for a component of a protein called merosin (or laminin 2), which is found in many tissues and organs in the body. The disease is inherited recessively, which means that both parents who are healthy carriers of the disease have a one in four chance of having a child with the disease, who will therefore have inherited both copies of the defective gene.
WHAT ARE THE TREATMENT OPTIONS
Currently, there is no treatment available for this life-threatening genetic LAMA2 disease.
There are 17 known cases of this rare disease in Switzerland, but there are several cases throughout Europe and the rest of the world, see lama2.com or LAMA2- The road to therapy.
P L E A S E S U P P O R T U S T O O
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