Minority diseases are defined by their low prevalence, since the affect is one case for every two thousand people. According to the Spanish Federation of Rare Diseases (SPRING) in Spain there are three million people with this diagnosis. And in Europe 40 out of every 10.000 people suffer from a rare disease.
At the Aspace Catalunya Foundation, cases related to neurological disorders are treated. However, as the symptoms of minority diseases are diverse, each person needs personalized attention and the procedures are usually different in each case.
Diagnosis of minority diseases
The group of minority diseases is very heterogeneous, but they have in common that they are difficult to diagnose, it may take many years to reach a definitive diagnosis and may even never be diagnosed. Most rare diseases do not have specific treatments, thus presenting challenges for health professionals and causing great uncertainty for families.
80% of these diseases are of genetic origin, in this sense, the great advances in studies in this area have opened a door to improve the identification of new genes and time in diagnosis. However, there are still many diseases called "undiagnosed" that cannot be encompassed by a specific name or genetic alteration.
Can we talk about symptoms in minority diseases?
Minority diseases present diverse signs and symptoms with cardiac involvement, ophthalmological, renal, pulmonary, digestive and dermatological. More than 50% show neurological involvement such as intellectual disability, epilepsy, movement disorders and behavioral disturbances among many other symptoms.
The diagnostic difficulty and the absence of specific treatments implies higher costs in therapies, often ineffective, greatly affecting the quality of life of the patients. Multidisciplinary teams with doctors from different areas are necessary and special neurorehabilitation therapies for each of these.
Minority diseases are currently a challenge for professionals and international registries are being developed to be able to gather patients from all over the world and promote studies and clinical trials for diagnosis and preparation of clinical guidelines for follow-up and treatment.
Social support in the day-to-day life of people with minority diseases
The role of families in these diagnoses and the formation of family associations is very important to publicize the symptoms and describe in a realistic and detailed manner the problems they suffer.
These associations have promoted the involvement and advancement of science by providing knowledge to the professionals who attend to these patients on a daily basis.
Minority diseases and their treatment at the Aspace Catalunya Foundation
The Aspace Catalunya Foundation specializes in neurodevelopmental diseases, for this reason, treatments are carried out for minority diseases that present intellectual disability or complex neurological alterations. Those associated with motor, movement, behavioral and learning disorders.
The first visit is made to ambulatory care, where they are visited with the neurology or neuropediatrics team and the rehabilitation doctor. Since minority diseases usually have different symptoms and characteristics, therapies are adapted depending on the difficulties of each person.
The neurorehabilitation team specializing in complex pathologies at Aspace Catalunya is made up of professionals from various disciplines, such as speech therapy, physiotherapy, occupational therapy, psychiatry or psychology
Bibliography on minority diseases
Trevor Richter, PhD, MSc, Sandra Nestler-Parr, PhD, MPhi, Robert Babela, PhD, MSc3 et al. Rare Disease Terminology and Definitions—A Systematic Global Review: Report of the ISPOR Rare Disease Special Interest Group. VALUE IN HEALTH 18 (2015) 906, 914–XNUMX.
Marwaha S, Knowles JW, Ashley EA. A for the diagnosis of rare and undiagnosed diseases: beyond the exome. Genome Med. 2022 Feb 28;14(1):23. doi: 10.1186/s13073-022-01026-w. PMID: 35220969; PMCID: PMC8883622.
