Doctor in charge Dr.ssa Maria Grazia D'Angelo,
Neuromuscular Unit IRCCS Eugenio Medea, Bosisio Parini
Dott.ssa A. Berardinelli - IRCCS Mondino Foundation, Pavia
Prof. G.P. Comi - Department of Neuroscience and Mental Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano
Prof A. DelleFave - University of Milan - Department of Medical and Surgical Physiopathology and Transplantation
Dr. L. Maggi - IRCCS Carlo Besta Neurological Institute Foundation
Prof. M. Filosto - U.O. Neurology, ASST "Spedali Civili" of Brescia
Prof. S . Previtali - IRCCS San Raffaele Hospital, Division of Neuroscience, Milan, Italy.
At the end of last December, an outbreak of pneumonia was recorded in the city of Wuhan in Central China, which was subsequently associated by Chinese authorities and the World Health Organization (WHO) with a new coronavirus referred to first as 2019 n-CoV, then SARS-CoV-2. On March 11 following the massive spread of this virus in the world population, the WHO declared a pandemic status. Coronaviruses (CoVs) are a large family of respiratory viruses that can cause respiratory diseases of varying degrees. Coronaviruses are common in many animal species (such as camels and bats) but in some cases, although rare, they can evolve to infect humans and then spread to the general population. Contact with symptomatic cases (people who are infected and have already shown symptoms of the disease) is the main driver of transmission of the new SARS-CoV-2 coronavirus. Containment measures have been taken at different times by most countries in the world to limit the spread of the pandemic.
Italy has been one of the nations, to date, most affected by the Pandemic, with higher peaks of symptomatic patients and deaths in March and April. On 21 July 2020, data from the Istituto Superiore di Sanità and the Ministry of Health, reported that throughout the Italian Peninsula since the start of the pandemic linked to the SARS-CoV2 infection, a total of 244.708 infected subjects, of which 34,126 died (57.6% males and 42.4% females, with a lethality rate of 17.6 in males and 10.9 in females, respectively). 96,034 positive cases and 16,779 deaths were recorded in the Lombardy Region (49.1% of the total in Italy). Although the official portal of the Istituto Superiore di Sanità has published not only preventive measures for contagion and transmission, epidemiological data, integrated surveillance data, but also suggestions on the lifestyle to be implemented, none of these suggestions has taken into consideration the presence in a family nucleus of a patient with a neuromuscular disease.
The term "neuromuscular diseases of genetic origin" usually identifies a rather heterogeneous group of diseases such as muscular dystrophies, myopathies and spinal muscular atrophies (SMA 1-4) that however share some characteristics such as progressive muscle weakness and hypotrophy, genetic origin, lack of therapy, the loss of some or all motor autonomy with confinement to a wheelchair or bed, partial or complete dependence on a caregiver, the progressive weakening of respiratory muscles with the need for non-invasive ventilation therapy, the development of heart disease with the need for specific drug therapy are very common.
Although in the absence of exhaustive epidemiological studies, the prevalence of genetically based muscle diseases in the world is around 16.1 per 100,000. We can therefore assume that in the Italian population of about 60 million inhabitants (2019 Istat data) there are about 10,000 subjects affected by neuromuscular diseases of genetic origin. The Lombardy Region has a population of more than 10 million (2019 Istat data) and therefore we can assume that there are more than 1,500 subjects with neuromuscular diseases.
There are currently no data showing whether the SARS-CoV-2 virus can infect more people with neuromuscular pathologies, but it is certain that given the frequent presence of respiratory problems, the contraction of the infection could be associated with the development of severe pneumonia with important complications. Together with the specialists of the reference centers who have responded to calls from individual families, patient associations have answered some questions through webinars organized with experts (Parent Project, UILDM and GBL onlus to give some examples), the only ones to give some answers, but many other needs/questions are still waiting for an answer.
As of the second half of February, each "neuromuscular" patient and their family members/caregivers were faced with two sets of problems:
1) the emotional stress created by the "lock down" situation with the loss of all direct social contact
2) the management of logistic problems linked to the need for "extra-familiar" assistance such as medical-nursing care, hygiene support, physiotherapeutic treatment usually carried out at home and, in the event of the development of a respiratory infectious pathology, the possibility of performing a "nasal and pharyngeal swab" for suspected COVID19 infection, the management of specific treatment at home
- We doctors, on the other hand, have been faced with the needs :
1) in the immediate future, to carry out remote clinical monitoring, without the possibility of instrumental investigations and with the need for therapeutic interventions, where possible, always at a distance.
2) in a short-term projection (hypothetically by the end of the year 2020), to verify how and to what extent the pandemic infection by COVID19 has manifested itself in the neuromuscular population, which may have been additional factors of vulnerability and / or protection compared to the normal population and to hypothesize a mode of return also for these subjects to "normality".
3) in a longer term projection (hypothetically starting from autumn 2020), to have to plan a future recovery of these subjects according to the needs dictated by changes in the clinical picture.
All this will have to be done in a scenario in which the national and regional health system has changed profoundly.
The Neuromuscular Unit of the Scientific Institute IRCCS E Medea (Dr. M.G. D'Angelo) with colleagues of the reference centers of neuromuscular diseases in the Lombardy Region:
1) IRCCS Mondino Foundation, Pavia - Dott.ssa A. Berardinelli
2) Department of Neuroscience and Mental Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico Milano - Prof. G.P. Comi
3) University of Milan - Department of Medical and Surgical Physiopathology and Transplantation - Prof A. DelleFave
4) IRCCS Carlo Besta Neurological Institute Foundation - Dr. L. Maggi
5) U.O. Neurology, ASST "Spedali Civili" of Brescia - Prof. M. Filosto
6) IRCCS San Raffaele Hospital, Division of Neuroscience, Milan -Prof. S . Previtali
therefore coordinates this study which has the objectives of:
1) to describe the psychological and emotional state of "neuromuscular" patients in Lombardy in relation to the "COVID19 pandemic" (it is assumed to collect data from more than 200 patients by the end of October 2020). Study possible correlations with specific genetic diagnosis, age, functional motor condition, respiratory and cardiac function.
2) Describe the clinical conditions and any organic problems occurring in the lock-down phase and in the immediately following phase, whether or not linked to the SARS-Cov viral infection. Study possible correlations of these conditions/problems with the specific genetic diagnosis, age, functional motor status, respiratory and cardiac function, current therapies and vaccination status.
3) provide answers to any needs arising from the study
4) to define, on the basis of what has been observed, organisational and planning strategies for taking charge of this "fragile" population in the event of a future new emergency
The study will require your cooperation in these ways:
- Interview (by telephone) with the doctor of the reference centre, introduction to the study and delivery of the questionnaires (also electronically) and explanations on how to fill them in (anonymised)
- Delivery of the questionnaires and new interview with the doctor of the reference centre (if possible within about 1 month after sending the questionnaires)
- Comprehensive clinical re-evaluation at the Reference Center (fall 2020)
We remain at your disposal for any further clarification,
Thank you in advance for your cooperation
Dr. Maria Grazia D'Angelo
Neurologist, Head of Unit Neuromuscular Diseases.
IRCCS E Medea- Association La Nostra Famiglia
Tel 031 877870 Fax 031 877807
Email: grazia.dangelo@lanostrafamiglia.it