Amyotrophic Lateral Sclerosis (ALS)
Amyotrophic lateral sclerosis (ALS) is an orphan disease with approximately 100’000 new cases each year, no treatment is currently available. ALS, also referred to as Lou Gehrig’s disease is a chronic neuromuscular disorder characterized by muscle wasting, weakness and spasticity, reflecting a progressive degeneration of upper and lower motor-neurons and leading irreversibly to death.
Spinal Muscle Atrophy (SMA)
Spinal Muscular Atrophy (SMA) is an orphan disease affecting 1 in 6’000-10’000 live births, no treatment is currently available. It is a severe autosomal recessive disease of childhood characterized by selective motor neuron degeneration. In affected children, motor neuron loss leads to progressive amyotrophic paralysis, respiratory failure, and often premature death.
Myasthenias (Myasthenia gravis MG, congenital myasthenic syndrome CMS)
Myasthenias cause various types of weaknesses and motor impairment. MG is the most common primary disorder of neuromuscular transmission with up to 60k new cases in the US each year. It mostly involves an autoimmune reaction against components of the NMJ. CMS on the other hand are relatively rarer and are caused by mutations to components of the NMJ.
Denervation at the NMJ is thought to play a role following nerve injuries as well as during phases of inactivity, as seen in patients under artificial respiration in ICU’s or in bedridden elderly people. Neurotune’s approach might significantly improve rehabilitation or reduce functional loss.
Sarcopenia is defined as loss of skeletal muscle mass and strength that occurs with advancing age. It is a pathological geriatric syndrome, which differs from muscle loss in normal aging. Current diagnosis of sarcopenia is cumbersome (e.g. DXA scan). Moreover, there is no effective medical treatment for the condition. Depending on the literature definition used for sarcopenia, the prevalence in 60–70-year-olds is reported as 5–13%, while the prevalence ranges from 11 to 50% in people >80 years. Even with a conservative estimate of prevalence, sarcopenia affects >50 million people today and will affect >200 million in the next 40 years. (Cruz-Jentoft et al., 2010)