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SJD Barcelona Children's Hospital

Passeig Sant Joan de Déu, 2, 08950 Esplugues de Llobregat

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Neuromuscular Diseases
Unidad de Enfermedades Neuromusculares del Hospital Sant Joan de Déu Barcelona

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.


  • 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).

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.

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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.

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Specialised in paediatric neuromuscular diseases

We are the only centre in Spain dedicated exclusively to these diseases.

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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.

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Our activity


Hereditary neuropathies genetically confirmed


International clinical trials in progress


Patients treated per year

Specialities and services

Our professionals

Andrés Nascimento Osorio
Paediatric neurologist
Carlos Ignacio Ortez González
Paediatric neurologist
Cristina Jou Muñoz
Pathologist doctor
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Cecilia Jiménez Mallebrera


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:

Research team


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