What is LAMA2?

LAMA2 (laminin alpha 2) is a gene that codes for a protein that is part of the basement membrane, an important structure that connects and supports cells. Laminin alpha 2 is particularly active in the muscles and nervous system. It plays a crucial role in the development and maintenance of muscle structure and function, especially in skeletal muscles.

Mutations in the LAMA2 gene can lead to a muscle-related disease known as congenital muscular dystrophy (CMD). One of the more severe forms of this disease is laminin alpha 2 muscular dystrophy. This rare but severe form of muscular dystrophy leads to progressive muscle weakness that occurs at birth or in early childhood.

Affected children usually develop muscle weakness that worsens over time and are often dependent on assistive devices such as wheelchairs. They may also have other symptoms such as spasticity, skeletal deformities and breathing problems. The LAMA2 gene plays such an important role that its mutation has a number of serious effects on the whole body, especially the muscles and nervous system.

Aids and support in everyday life

As the disease progresses, proactive provision of aids is crucial in order to maintain quality of life and independence for as long as possible:

  • Mobility aids: Depending on the severity, individually adapted active wheelchairs, power wheelchairs or special rehab buggies provide support. These often have to have special seat shells to provide optimum support for the spine.
  • Standing and transfer aids:Standing trainers are essential to maintain bone density, promote digestion and prevent contractures. Patient lifts make everyday transfers easier.
  • Orthopaedic care: Custom-made orthoses for legs and feet as well as corsets to stabilize the spine (for scoliosis) are frequent companions.
  • Respiratory support: In the event of respiratory problems, cough assistants (CoughAssist) or nocturnal ventilators help to support lung function.
  • Positioning systems: Special mattresses and positioning cushions help to maintain an ergonomic position at night and avoid pain caused by misalignments.

Tools that are frequently used LAMA2:

 

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You can find more helpful information about LAMA2 here:

lama2.com