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We use pioneering treatments and treat all neuromuscular diseases, particularly Duchenne muscular dystrophy and spinal muscular atrophy
The Neuromuscular Diseases (NMD) Unit at SJD Barcelona Children’s Hospital is made up of a multidisciplinary team with experience in diagnosing, treating and researching the different pathologies within the sphere of NMDs
We are pioneers in the treatment of patients with Duchenne muscular dystrophy and spinal muscular atrophy, among other diseases. We collaborate with organisations and centres all over the world and we have developed an ambitious research programme focused on patient and family care.
Accreditations
- Our unit forms part of the EURO-NMD (European Reference Network for Neuromuscular Diseases)
- We have been granted the CSUR (Leading Centres, Services and Units) accreditation from the Ministry of Health, recognising us as a leading unit within the Neurology department.
- Members of the network of expert clinical units (XUEC in its acronym in Catalan) for care of neuromuscular diseases.
Why Sant Joan de Déu?
Although the vast majority of neuromuscular diseases are genetic, children present complex clinical pictures with symptoms that are sometimes difficult to diagnose. Diagnosis is therefore a complex process that needs to be confirmed through proper interpretation of the biomedical, neurophysiological and genetic test results.
Our team of paediatric neurologists is specialised in the study of electromyography specifically tailored to NMDs in childhood, which very few centres in Spain can offer. Patient diagnosis is based on the constant collaboration between the Diagnostic Imaging, Anatomical Pathology, Laboratory and Genetics departments and the Paediatric Institute for Rare Diseases (IPER).
Our hospital takes part in clinical trials and research aimed at understanding the origin of these diseases and developing new, more effective therapies.
Children’s Hospital Certificates of excellence and research networks
Our hospital takes part in clinical trials and research aimed at understanding the origin of these diseases and developing new, more effective therapies.
The Spanish Ministry of Health has granted us with CSUR accreditation (Reference Centres, Services and Units) in Rare Neuromuscular Diseases.We are also part of the European network for Rare Neuromuscular Diseases.
Treatments currently exist that delay the complications and progression of these diseases for which there is currently no cure.
We share information with other research centres and all our patients with congenital myasthenia are on the national registry of neuromuscular diseases. Furthermore, all our patients with spinal muscular atrophy (SMA) are involved in the study of the progression of the disease.
At SJD Barcelona Children’s Hospital, each case is analysed by a large team to provide the best possible treatment and improve the quality of life of our patients.
Comprehensive treatment of neuromuscular disease
At SJD Barcelona Children’s Hospital, each case is analysed by a large team to provide the best possible treatment and improve the quality of life of our patients.
We have a comprehensive treatment Unit for Neuromuscular Disease (NCTU). Patients suffering from these diseases need extensive specialist clinical and psychosocial support. For this aim we frequently work closely with other departments and units, such as the Rehabilitation, Gastroenterology, Orthopaedics, Neonatology, ICU, Pulmonology and Cardiology departments.
We are the only centre in Spain dedicated exclusively to these diseases.
Specialised in paediatric neuromuscular diseases
We are the only centre in Spain dedicated exclusively to these diseases.
We monitor our patients by evaluating them through specific functional scales, which we use in more than 50% of cases. This allows us to learn more about these diseases in order to identify possible biomarker and therapeutic targets. Thanks to our highly-specialist team, we have launched a programme to prolong walking time in patients with Duchenne muscular dystrophy.
The quality of family care, as well as highly-specialised treatment and psychosocial support are what make us a leading hospital.
Coordinated work for an accurate diagnosis
The quality of family care, as well as highly-specialised treatment and psychosocial support are what make us a leading hospital.
There are more than 150 neuromuscular diseases, the majority of which are genetic and whose main characteristic is the progressive loss of muscle strength. These are chronic diseases, generally minority or rare, which impede comprehensive development in children, causing them to lose independence.
Between 30-40% of patients with NMD are currently waiting for a genetic diagnosis. A quarter of the visits to our Unit come from outside Catalonia for the purpose of confirming the disease’s diagnosis.
Our activity
Hereditary neuropathies genetically confirmed
International clinical trials in progress
Patients treated per year
Our professionals
Research
We are currently developing four clinical trials that play a key role in furthering the knowledge of neuromuscular disease and developing new therapies. We usually provide information on these studies to families and patient associations, with whom we keep in close contact. When possible, we also offer them the opportunity to take part in clinical trials.
The members of the Neuromuscular Diseases Unit at SJD Barcelona Children’s Hospital are involved in several research projects, which are carried out at the Sant Joan de Déu Research Institute (IRSJD), including the following:
- Congenital muscular dystrophy: Duchenne muscular dystrophy and congenital muscular dystrophies.
- Diseases related to nuclear mitochondrial myopathies.
- We have discovered a new function of collagen VI in the regulation of glucose metabolism in muscle and fat cells, in collaboration with the University of Barcelona and CIBERDEM. This discovery is the basis of a patent application.
We also work to facilitate research in this field through the collection of tissues and cells, collaboration with other centres and training for technical and research staff. The Unit works in coordination with other national and international networks and projects, including:
- TREAT-NMD European network
- Centre for Biomedical Network Research on Rare Diseases (CIBERER)
- Dubowitz Neuromuscular Centre (Centre for Neuromuscular Diseases)
- Exon Skipping network, COST Action programme
- New biomarker research project with BIO-NMD
Research team
Teaching
SJD Barcelona Children’s Hospital is a university hospital affiliated with the University of Barcelona. We share our knowledge and train professionals so that they can specialise in high-complexity medicine. The Neuromuscular Diseases Unit is involved in teaching on the following postgraduate courses and studies:
Biannual course on Neuromuscular Pathology in childhood
Training focused on the daily practice of the professionals who treat cases of neuromuscular disease in childhood and adolescence. The course also provides updates on the types of treatment for the main diseases and reviews the latest diagnostic and neuroimaging techniques.
- Duration: 2 days
- Taught by: Jaume Colomer, Andrés Nascimiento, Carlos Ortez
Master’s degree in Neuropaediatrics
Professionals from the Neurology Department teach the neuromuscular diseases module on this Master’s degree aimed at specialists in this paediatric field. The master’s degree offers comprehensive training in the speciality through active participation in all of the department’s activities.
- Duration: 2 years
- Course Director: Jaume Campistol Plana
- Qualification: Master’s Degree from the University of Barcelona
- Accreditation: 154 ECTS credits