The Functional Unit for Neuromuscular Disorders (UFMNM), of the Hospital de la Santa Creu i Sant Pau’s Neurology Department (UMNM-HSCSP), devotes its attention to neurological conditions that affect the peripheral nervous system (motor neuron, roots, peripheral nerve, neuromuscular junction and muscle).
Rare Neurological Disorders (MNM) have a wide range of causes, but, in all cases, their diagnosis and treatment require very specific and highly complex diagnostic tests and explorations, both in their understanding and in their clinical and therapeutic management.
Approximately 2,500 patients visit the unit each year, including initial visits and follow-up visits. Around 1,000 of these patients are eventually diagnosed with a rare neuromuscular disorder.
These disorders are undergoing an exponential increase in clinical trials, both for auto-immune and genetic disorders. This is a highly important research process, which translates into better patient care. There are currently clinical trials taking place for Pompe disease, FSHD, Duchenne, SMA, Myasthenia gravis and CIDP. Previously completed trials have been positive for disorders such as amyloid neuropathy, Pompe disease and spinal muscular atrophy, for example.
The Functional Unit is supported by the participation and collaboration of other hospital departments, depending on the needs of each patient. This creates a cross-disciplinary approach, whilst offering a range of highly complex services in line with the expertise acquired over the years.
The unit is structured around specialised consultations depending on the neuromuscular speciality. Each of the unit’s consultants is highly specialised in one of the subgroups of neuromuscular disorders, with four different kinds of specialised consultation:
1. Consultation for myasthenia gravis
2. Consultation for auto-immune and hereditary disorders
3. Consultation for hereditary myopathies and dystrophies
4. Consultation for amyotrophic lateral sclerosis (ALS).
In order to monitor patients, it is essential to have cross-disciplinary teams. In our case, we have cross-disciplinary teams with professionals who are specifically trained in the follow-up of all pathologies that need it: there are 5 on-site/off-site cross-disciplinary committees.
Dr Isabel Illa is the Head of the Neuromuscular Disorders Unit (ENM) of Barcelona’s Hospital Santa Creu i Sant Pau (HSCSP) Neurology Department. She is a professor of neurology at the Universitat Autònoma de Barcelona (UAB) and Head of the Experimental Neurology Laboratory of the HSCSP Research Institute.
Dr Illa is in charge of coordinating the Functional Unit for Neuromuscular Disorders.
- Provide comprehensive diagnoses and treatment to patients with neuromuscular 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.
- Understand and apply specialised latest-generation diagnostic techniques.
Plan the individualised follow-up and treatment of patients with neuromuscular disorders.
- Apply new scientific evidence to the diagnosis, follow-up and treatment of neuromuscular disorders.
- Provide access to new innovative drugs and/or treatments for patients with neuromuscular disorders.
- Develop new diagnostic and therapeutic approaches.
- Immunological tests for diagnosing and detecting antibodies responsible for immune-mediated neuromuscular disorders.
- Programme of the Gynaecology and Obstetrics Department/Puigvert Foundation for Assisted Reproduction and pre-implantation genetic diagnosis in rare neurological disorders.
- Blood and tissue bank that carries out plasmapheresis treatments.
- Day Hospital for highly specialised treatments: IVIg, Rituximab and ERT.
- Imaging tests (muscle magnetic resonance), including: T1w, STIR, 3.Dixon, T2.
- Muscle biopsies, execution and pathological analysis.
- Follow-up visits with the on-site cross-disciplinary committees: ALS Committee, Neurocot Committee.
- Evaluation of patients with myasthenia gravis and thymus pathologies with the tumours committee.
- Evaluation of the genetic diagnostic approach for patients with undiagnosed hereditary neuromuscular disorders with the neuro-genetic committee.
- Evaluation of neuromuscular patients with a cardiac and respiratory pathology with the neuro-cardio-pneumo committee.
- Intensive care unit for managing patients with neuromuscular disorders in a critical situation.
- Collection of biological samples for research.
The Unit is located within the Neurology department. The Unit is supported by the participation and collaboration of other hospital departments, depending on the needs of each patient, creating a cross-disciplinary approach:
- Physical Medicine and Rehabilitation
- Endocrinology and Nutrition
- Traumatology and Orthopaedics
- Blood and Tissue Bank (BST)
- Laboratory of Immunology
- Laboratory of Genetics
- Intensive Care Unit