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Neuromuscular disorders

Research Center
Research Area


Dott.ssa Maria Grazia D'Angelo
Neurologist, Resarch Unit coordinator
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Dott.ssa Annamaria Russo

Ing. Emilia Biffi
Biomedical engineer

Eleonora Diella

Morena Delle Fave

Ester Donghi

Marco Battistini

Valerio Martocchi


+39 031 877870 - Grazia D'Angelo



A recent classification (Gene Table of NeuroMuscular Disorders) identifies 840 different neuromuscular disorders related to 465 genes (with additional 72 mapped loci awaiting for gene definition).

These diseases can be differentiated in 16 macrogroups: 1) muscular dystrophies 2) congenital muscular dystrophies 3) congenital myopathies 4) distal myopathies 5) other myopathies 6) myotonic syndromes 7) channelopathies 8) malignant hyperthermia 9) metabolic myopathies 10) inherited cardiomyopathies 11) congenital myastenic syndromes 12) motor neuron diseases 13) inherited ataxias 14) inherited sensory-motor neuropathies 15) inherited spastic paraplegias 16) other neuromuscular disorders

Between these macro groups, the NeuroMuscular Unit promoted and took part to sevral multicenter projects mainly involving muscular dystrophies, motor neuron diseases, inherited ataxias and spastic paraplegia.

In detail, muscular dystrophies represent an heterogeneous group of genetic disorders characterized by progressive muscular weakness involving at onset limb girdle, by high blood levels of creatine kinase (CK) and by histological signs of muscle degeneration-regeneration. The wide clinical spectrum ranges from severe with childhood onset to slowly progressive adult onset forms. Clinical heterogeneity is related to a very high molecular variability, that makes a continuous revision of the molecular classification essential.

Despite the increasing knowledges in the pathogenic mechanisms and in the differential diagnosis, a therapy able to stop or slow down the disease progression is still missing.

The lack of therapies matches with the lack of outcome measures able to detect the their efficacy .

Genotype-phenotype correlation, natural history studies and updated patients registries are as essential as preclinical studies (animal and cellular models) in the development of therapeutic strategies able to improve the muscular function and the quality of life of the patients with neuromuscular disorders.

The NeuroMuscular unit is involved since the beginning of 2000 in clinical research aimed to define genotype-phenotype, to identify motor and quality of life outcome measures in muscular dystrophies and in Motor Neuron disease through the participation to multicenter studies involving the Italian network of neuromuscular disorders. Through the collaboration with the Neuroradiology Unit (CESNE) of the IRCCS E. Medea and the Department of Electronic, Information and Biomedical Engineering of the Politecnico of Milano, the Unit is studying the pathophysiological mechanisms of muscular degeneration and working of the identification of biomarkers by imaging (3 Tesla Magnetic Resonance) and kinematic of the respiratory muscle (Optoelectronic Plethysmography).

The Unit took part to the data collection in several national registry for muscular dystrophies (Limb Girdle Muscular dystrophies- Myotonic Dystrophy)

In the last years the Unit took part to several national and international phase 2 and 3 clinical trials; the active ones are :

  1. Multicenter International Phase III clinical trial: “A Phase III Double-blind, Randomized, Placebo-Controlled Study assessing the Efficacy, Safety and Tolerability of Idebenone in Patients with Duchenne Muscular Dystrophy ReceivingGlucocorticoid steroids SIDEROS”.
    - EudraCT n° : 2016-000602-10
    - Promoter:” Santhera Pharmaceuticals (Switzerland) Ltd Recruting
  2. Phase III clinical trial “Safety and Efficacy of yIFN treatment in Friedreich ataxia”
    - EudraCT n°: 2015-002432-40
    - Promoter: Associazione “La Nostra Famiglia” - IRCCS “E. Medea” Ending december 2017
  3. Multicenter clinical trial with medical devices: “USEFUL: User-centred assistive SystEm for arm Functions in neUromuscuLar subjects”
    - EudraCT n° : Codice di Protocollo Clinico 013/16-CE
    - Promoter : TELETHON_UILDM - GUP15021REcruiting

Selected publications (since 2010)

  • Lo Mauro A, D'Angelo MG, Romei M et al A. Abdominal volume contribution to tidal volume as an early indicator of respiratory impairment in Duchenne muscular dystrophy. Eur Respir J. 2010 May;35(5):1118-25. 
  • Romei M, Mauro AL, D'Angelo MG, et al. Effects of gender and posture on thoraco-abdominal kinematics during quiet breathing in healthy adults. Respir Physiol Neurobiol. 2010 Jul 31;172(3):184-91. 
  • D'Angelo MG, Romei M, Lo Mauro A et al. Respiratory pattern in an adult population of dystrophic patients. J Neurol Sci. 2011 Jul 15;306(1-2):54-61. Magri F, Govoni A, D'Angelo MG et al . Genotype and phenotype characterization in a large dystrophinopathic cohort with  extended follow-up. J Neurol. 2011 Sep;258(9):1610-23.
  • Magri F, Del Bo R, D'Angelo MG et al. Clinical and molecular characterization of a cohort of patients with novel nucleotide alterations of the Dystrophin gene detected by direct sequencing. BMC Med Genet. 2011 Mar 11;12:37. 
  • Cagliani R, Fruguglietti ME, Berardinelli A, D'Angelo MG, et al. New molecular findings in congenital myopathies due to selenoprotein N gene mutations. J Neurol Sci.2011 Jan 15;300(1-2):107-13.
  • Piccinini L, Cimolin V, D'Angelo MG, et al. 3D gait analysis in patients with hereditary spastic paraparesis and spastic diplegia: a kinematic, kinetic and EMG comparison. Eur J Paediatr Neurol. 2011 Mar;15(2):138-45.
  • D’Angelo MG, Lorusso ML, Civati F. et al “Neurocognitive Profiles in Duchenne Muscular Dystrophy and Gene Mutation” Pediatr Neurol. 2011 Nov;45(5):292-9M. Romei , M.G. D’Angelo , A. LoMauro et al. Low abdominal contribution to breathing as daytime predictor of nocturnal desaturation in Duchenne Muscular Dystrophy Respir Med. 2012 Feb;106(2):276-83.
  • Lorusso ML, Civati F, Molteni M, Turconi AC, Bresolin N, D'Angelo MG. Specific profiles of neurocognitive and reading functions in a sample of 42 Italian boys with Duchenne Muscular Dystrophy. Child Neuropsychol. 2013 Jul;19(4):350-69.
  • D'Angelo MG, Gandossini S, Boneschi FM, et al. Nitric oxide donor and non steroidal anti inflammatory drugs as a therapy for muscular dystrophies: Evidence from a safety study with pilot efficacy measures in adult dystrophic patients Pharmacol Res. 2012 Apr;65(4):472-9. 
  • LoMauro A, Pochintesta S, Romei M, D'Angelo MG et al.  Rib cage deformities alter respiratory muscle action and chest wall function in patients with severe osteogenesis imperfecta. PLoS One. 2012;7(4):e35965. Epub 2012 Apr 27.
  • Magri F, Bo RD, D'Angelo MG,.et al. Frequency and characterisation of anoctamin 5 mutations in a cohort of Italian limb-girdle muscular dystrophy patients.Neuromuscul Disord. 2012 Nov;22(11):934-43
  • Pane M, Scalise R, Berardinelli A, D'Angelo G et al.. Early neurodevelopmental assessment in Duchenne muscular dystrophy. Neuromuscul Disord. 2013 Jun;23(6):451-5.Lomauro A, Romei M, D'Angelo MG, Aliverti A. Determinants of cough efficiency  in Duchenne muscular dystrophy. Pediatr Pulmonol. 2013 Jul 14. doi: 10.1002/ppul.22836.
  • Magliano L, Patalano M, Sagliocchi A, Scutifero M et al. "I have got something positive out of this situation": psychological benefits of caregiving in relatives of young people with muscular dystrophy. J Neurol. 2014 Jan;261(1):188-95.
  • Pane M, Mazzone ES, Fanelli L et al. Reliability  of the Performance of Upper Limb assessment in Duchenne muscular dystrophy. Neuromuscul Disord. 2014 Mar;24(3):201-6.
  • LoMauro A, Romei M, Priori R et al. Alterations  of thoraco-abdominal volumes and asynchronies in patients with spinal muscle atrophy type III. Respir Physiol Neurobiol. 2014 Jun 15;197:1-8.
  • Magliano L, D'Angelo MG, Vita G et al. Psychological and practical difficulties among parents and healthy siblings of children with Duchenne vs. Becker muscular dystrophy: an Italian omparative study. Acta Myol. 2014 Dec;33(3):136-143.
  • Pane M, Mazzone ES, Sivo S et al. The 6 minute walk test and performance of upper limb in ambulant duchenne muscular dystrophy boys. PLoS Curr. 2014 Oct 7;6. pii: ecurrents.md.a93d9904d57dcb08936f2ea89bca6fe6.
  • Magliano L, Patalano M, Sagliocchi A et al. Burden, professional support, and social network in families of children and young adults with muscular dystrophies. Muscle Nerve. 2015 Jul;52(1):13-21.
  • Buyse G , Voit T , Schara U , Straathof C , D’Angelo MG , Bernert G , Cuisset JM , Finkel R, Goemans N , McDonald G , Rummey C, and Meier T ; for the DELOS Study Group: Efficacy of idebenone on respiratory outcome in DMD patients not using glucocorticoid steroids: Results of a phase 3 double-blind, randomised, placebo-controlled multicenter trial (DELOS) Lancet. 2015 May 2;385(9979):1748-57.
  • LoMauro A, D'Angelo MG, Aliverti A. Assessment and management of respiratory function in patients with Duchenne muscular dystrophy: current and emerging options.Ther Clin Risk Manag. 2015 Sep 28;11:1475-88.
  • Magri F, Colombo I, Del Bo R et al ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.BMC Neurol. 2015 Sep 24;15:172.
  • Pane M, Fanelli L, Mazzone ES et al Benefits of glucocorticoids in non-ambulant boys/men with Duchenne muscular dystrophy: A multicentric longitudinal study using the Performance of Upper Limb test. Neuromuscul Disord. 2015 Oct;25(10):749-53.
  • Chieffo D, Brogna C, Berardinelli A, D'Angelo G et al  Early Neurodevelopmental Findings Predict School: Age Cognitive Abilities in Duchenne Muscular Dystrophy: A Longitudinal Study.PLoS One. 2015 Aug 14;10(8):e0133214.
  • Messina S, Vita GL, Sframeli M et al.Health-related quality of life and functional changes in DMD: A 12-month longitudinal cohort study. Neuromuscul Disord. 2016 Feb 2. pii: S0960-8966(16)00019-5.
  • Mazzone ES, Coratti G, Sormani MP et al. Timed Rise from Floor as a Predictor of Disease Progression in Duchenne Muscular Dystrophy: AnObservational Study. PLoS One. 2016 Mar 16;11(3):e0151445. doi:10.1371/journal.pone.0151445.
  • Nikolic A, Ricci G, Sera F, et al. Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry. BMJ Open. 2016 Jan 5;6(1):e007798.
  • McDonald CM, Meier T, Voit T, Schara U et al. Idebenone reduces respiratory complications in patients withDuchenne muscular dystrophy. Neuromuscul Disord. 2016 May 12. pii:S0960-8966(16)30157-2. doi: 10.1016/j.nmd.2016.05.008.
  • Ricci G, Ruggiero L, Vercelli L, et al. A novel clinical tool to classify facioscapulohumeral muscular dystrophy phenotypes. J Neurol. 2016 Jun;263(6):1204-14. doi: 10.1007/s00415-016-8123-2. Epub 2016 Apr28.
  • Mercuri E; DMD Italian Group. Registries versus tertiary care centers: How do we measure standards of care in Duchenne muscular dystrophy? Neuromuscul Disord. 2016 Apr-May;26(4-5):261-3. doi: 10.1016/j.nmd.2016.04.001.
  • Magri F, Nigro V, Angelini C,. The italian limb girdle muscular dystrophy registry: Relative frequency, clinical features, and differential diagnosis. Muscle Nerve. 2017 Jan;55(1):55-68. 


  • Prof. N Bresolin e Prof GP Comi –Ospedale Maggiore Policlinico Fondazione Ca’ Granda, Universita’ di Milano, Milano.
  • Prof A Aliverti, Ing A LoMauro, Ing F. Pennati-Dipartimento di Elettronica, Informazione e BioIngeneria del Politecnico di Milano
  • Network Italiano delle malattie neuromuscolari
  • Professor Eugenio Maria Mercuri – Policlinico Gemelli Roma
  • Dottoressa Angela Lucia Berardinelli – Ospedale Mondino -Pavia
  • Professoressa Luisa Politano – Policlinico Universitario Napoli
  • Dottore Giovanni Baranello –Istituto Neurologico C Besta Milano
  • Dottoressa Adele D'Amico –Ospedale Bambino Gesù Roma
  • Professore Giacomo Pietro Comi – Fondazione Policlinico Università degli studi di Milano
  • Dottoressa Antonella Pini – Ospedale Bellaria- Bologna
  • Dottoressa Roberta Battini – IRCCS Stella Maris Pisa
  • Dottoressa Valeria Sansone- Centro Clinico NeMO Milano
  • Professoressa Sonia Messina – Centro Clinico NeMO- Messina
  • Dottore Claudio Bruno – Ospedale Gaslini Genova
  • Professoressa Elena Pegoraro – Dipartimento Scienze Biologiche e Psichiatriche-Università di Padova

Collaborations with patients associations


© I.R.C.C.S. Medea - Associazione La Nostra Famiglia C.F.-P.IVA 00307430132