The unique workplace has recently been modernized, and thanks to new equipment and comprehensive care “under one roof”, doctors manage to prolong the lives of adult patients with neuromuscular diseases and increase their quality.
Rare neurological diseases (approximately five out of ten thousand people suffer from them) represent a significant problem due to the complexity of diagnosis and specific therapeutic options. This includes a large part of neuromuscular diseases.
Some of them gradually lead to respiratory insufficiency. This first manifests itself during sleep, and already at this stage it is advisable to treat this problem with non-invasive ventilation support during sleep. As the disease progresses, the need for non-invasive ventilation extends into the daytime as well. The VFN Center for Sleep and Wake Disorders provides diagnosis of breathing and sleep disorders in these diseases and sets up respiratory support treatment that patients use in their home environment.
Diseases with increased sleepiness
Another group of rare neurological diseases are central hypersomnias (diseases with increased sleepiness), which the Center has been dealing with since the middle of the last century. This group includes narcolepsy, which has four classic symptoms: sudden falling asleep, cataplexy (sudden loss of skeletal muscle), sleep paralysis, and sleep hallucinations.
The second disease from this group is idiopathic hypersomnia, characterized by a very long night’s sleep with difficulty waking up. Idiopathic hypersomnia was first described by the Czech neurologist, associate professor of the neurology clinic and founder of its sleep department, Bedřich Roth.
The center also investigates movement disorder diseases such as Parkinson’s disease and its prodromal stage, REM sleep behavior disorder, and sleep-related problems in these diseases.
“I am glad that thanks to the recent modernization of the premises of the Center for Sleep and Wake Disorders, we can now provide diagnostic stays even for completely immobile patients who require the correct setting of respiratory support. Our clinic is one of three workplaces in the Czech Republic that are part of the European network for rare neurological facilities with a focus on comprehensive diagnosis and treatment of movement control disorders.” states the head of the Neurological Clinic of the 1st Faculty of Medicine, UK and VFN, prof. MD Robert Jech, Ph.D.
The modernization of the sleep laboratory increased the comfort of patients and the possibilities of doctors. Construction modifications, which the workplace underwent from April to June of this year, led to the enlargement of one patient room and the modernization of the bathroom with a toilet.
The spaces now meet the current requirements for medical facilities, they are easily accessible for wheelchairs and transport couches. There is now enough space in the patient room to accompany the patient, which is a huge improvement and increase in comfort from the point of view of patients, who usually cannot do without the assistance of a caregiver.
The largest share of sleep disorders is obstructive sleep apnea
The center deals with diseases with excessive daytime sleepiness, examines patients with poor-quality night sleep of various causes, for example with periodic limb movements during sleep and restless legs syndrome. Doctors here also care for patients with parasomnias, such as night terrors and somnabulism. They also deal with REM sleep behavior disorder. The largest share of sleep disorders is obstructive sleep apnea, and the number of patients with neuromuscular diseases is increasing.
Gradual loss of momentum
Neuromuscular diseases include a wide range of diseases, the most prominent manifestation of which is a deterioration of mobility of varying degrees – from mild disability to almost complete loss of movement. Other symptoms are difficulty in swallowing, speaking, breathing, sometimes also limitation of mental functions, seizures and sleep disorders. Diseases can be congenital, hereditary or acquired. Most hereditary neuromuscular diseases are progressive and often manifest themselves already in childhood by disrupting the child’s normal motor development.
“The groundbreaking step was the introduction of gene therapy for spinal muscular atrophy and newborn screening for this disease,” explains doc. MD Iva Příhodová, Ph.D., and adds: “For Duchenne muscular dystrophy and other types of dystrophy, therapeutic pathways to stop the progression of the disease are still being sought. We focus on maintaining active momentum for as long as possible, delaying respiratory failure, preventing cardiac and other related disabilities.”
Hereditary dystrophies can occur even in adulthood. Myasthenia gravis – a treatable autoimmune disease – is one of the other adult neuromuscular diseases treated by the neurology clinic. This usually leads to weakness of only some muscle groups (eye, chewing, swallowing), but can endanger patients with acute respiratory insufficiency. Early diagnosis of breathing disorders is absolutely crucial
Caring for patients with neuromuscular diseases requires multidisciplinary collaboration. The team of health specialists includes not only a neurologist, but also a somnologist (sleep specialist). “The main reason is that the respiratory insufficiency that affects patients with respiratory muscle weakness first appears in sleep, specifically in REM sleep,” warns as. MD Simona Dostálová and adds:
“Early diagnosis using nocturnal breathing registration, ideally in the form of polysomnography including blood gas analysis, is important for patients. Then follows treatment consisting mainly of ventilation support to ensure compensation of the breathing disorder.”
It is this ventilation support (non-invasive pulmonary ventilation) that is provided in the VFN center. First at night during sleep and during the progression of the disease even during the day while awake. The patient with the prescribed treatment then lives in a home environment under periodic supervision at the Center.
New devices significantly improve the quality of life
Some patients are dependent on the treatment and need it almost 24 hours a day. The new devices, covered by health insurance companies, allow such patients to be mobile and able to function outside the home thanks to the battery and attachment to an electric wheelchair. And even without connecting to the electrical network, which gives them a certain degree of freedom and significantly increases the quality of life. A convenience of modern times is also telemetric monitoring, thanks to which the doctor can have an overview of the use of the device by the patient even without his presence in the medical facility.
How does a resuscitation bed that helps premature babies work? General University Hospital in Prague
Blesk Practice Prague
Author: Blesku archive