Neurology, Addiction and Psychiatry Conference

Rare neurological and neuromuscular diseases represent a diverse and complex group of disorders affecting only a small percentage of the population. They are generally genetic, progressive conditions which are notoriously difficult to diagnose, as they are rare and mimic each other and more common diseases. Despite their rarity, these disorders have a profound impact on patients and their families because, due to the progressive nature of these conditions, most end up with an inability to work at full potential and grave diminution in quality of life.

While rare neuro diseases represent a few diseases, among them are Huntington's disease, Creutzfeldt-Jakob disease, and Rett syndrome. Such diseases affect the central nervous system and produce the most diverse clinical manifestations, from minor cognitive impairments to motor disorders and various other psychiatric manifestations, including seizures and behavioral changes. Being rare, they only add to the distress of diagnosis, often requiring highly specific tests, such as genetic screening or advanced neuroimaging.

Perhaps one of the biggest challenges in the management of such rare neurological diseases is that most are unknown both to health professionals and the general public. Thus, the diagnosis is often wrong or delayed. This may have adverse implications toward appropriate treatment and care. Moreover, for most of the less known disease of the nervous system, few therapy options exist. However, there will always be advanced research into gene therapies, neuroprotective drugs, and stem cell therapies, which eventually may unearth new paths of treatment of such devastating disorders.

Rare Neuromuscular Diseases are the terms that are used to imply neurological and muscular disorders. Diseases include muscular dystrophy, amyotrophic lateral sclerosis (ALS), and spinal muscular atrophy (SMA). Characterized by muscle weakness and a decline in motor functions along with ultimate cases that lead to respirations loss, these diseases advance in a progressive manner. In the advanced stage, these diseases take on a progressive cause that requires early diagnosis and time to intervene prior to slowing disease progression and symptoms.

Recent discoveries in genetics have shed light on potential new avenues in diagnosing and treating rare neuromuscular diseases. On top of this, gene replacement therapies and ASOs have shown great promise in targeting the genetic basis of some conditions, such as SMA. Finally, physical therapy and assistive devices have had much importance in facilitating mobility and facilitating improvement in quality of life for many patients with neuromuscular disorders.