Unitat funcional Malaties minoritaries TM
Functional Unit of Minority Diseases with Movement Disorders
Functional Unit of Minority Diseases with Movement Disorders (RDMDFU) of the Neurology Service of the Hospital de la Santa Creu i Sant Pau is a healthcare resource providing care for a whole range of nervous system disorders that, due to their complexity, require a multidisciplinary and highly specialized approach.
These are rare diseases with movement disorders, that are genetically determined and/or progressive, such as Huntington's Disease and other illnesses that involve chorea, ataxias, segmental and generalized dystonias, forms of early-onset Parkinson's Disease, or atypical Parkinsonism disorders such as progressive supranuclear paralysis, corticobasal degeneration, Lewy body dementia or multiple system atrophy.
Neurodevelopmental syndromes, such as tics, Tourette's syndrome and other disorders that start in childhood, also form part of the set of diseases classified as rare and which involve movement disorders. Moreover, functional or psychogenic movement disorders also fall within this category.
These diseases generally involve a high degree of complexity in terms of diagnosis, treatment and monitoring, while also having a huge impact at a personal, family and social level. As a result, caring for the people and families affected requires the deployment of a series of coordinated resources with the aim of ensuring the best quality healthcare and the best quality of life of the people affected.
The RDMDFU is structured in a series of consultation units specializing in the different diseases treated by the unit:
- Specialized Consultation Unit for Huntington's Disease
- Specialized Consultation Unit for Atypical Parkinsonism Disorders
- Specialized Consultation Unit for Ataxias and Hereditary Spastic Paraplegia
- Specialized Consultation Unit for Advanced Parkinson's Disease Therapies
The operation of the specialized consultation units is based on the multidisciplinary deployment of different healthcare resources designed to cover the whole range of needs of the diseases covered. This involves the participation of different services of the Hospital de la Santa Creu i Sant Pau affiliated to the RDMDFU (Neurosurgery, Psychiatry, Neuroradiology, Nuclear Medicine, Genetics, Physical Medicine and Rehabilitation, Gynaecology and Social Work) and the participation of professionals specializing in different areas (medicine, neurological nursing, neuropsychology, psychology, speech therapy).
The main objectives of RDMDFU are to:
- Provide comprehensive diagnoses and treatment to patients with rare diseases with movement disorders and their families, in line with international quality standards.
- Perform a complete assessment of the patient, involving the cross-disciplinary team, where the patient is the centre of attention.
- Apply specialised latest-generation diagnostic and therapeutic techniques.
- Plan the individualised and shared follow-up and treatment of patients.
- Apply new scientific evidence to the diagnosis, follow-up and treatment of this disorders.
- Provide access to new drugs and/or innovative treatments.
- Develop new diagnostic and therapeutic approaches.
- Give access to clinical trials and other studies that increase knowledge and improve the management of these diseases.
Dr. Jaume Kulisevsky
Movement Disorder Unit of the Neurology Service of the Hospital de la Santa Creu i Sant Pau.