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Idiopathic scoliosis is a three-dimensional spinal deformity characterized by a lateral curvature and rotation of the vertebrae without a known cause. It often appears during growth and may require medical monitoring to prevent progression.
The word scoliosis comes from Greek and means “curvature”. It is not considered a disease, but rather, a three-dimensional deformity. This is why the Scoliosis Research Society (SRS) defines it as a lateral curvature of the spine with a rotation of the vertebrae inside the curve of more than a 10º Cobb angle.
It is important to distinguish structural scoliosis from non-structural scoliosis, also known as pseudoscoliosis. In structural scoliosis, the spine shows a lateral deviation (the severity of which can be measured using the Cobb angle, which quantifies spinal deformities) and a rotational deformation that is measurable via the Adams Forward Bend Test and a scoliometer. In non-structural scoliosis, the lateral deviation does not involve vertebral rotation and this condition can be corrected via postural training.
Scoliosis, in turn, is divided into the idiopathic and secondary types. Idiopathic scoliosisis that for which no cause can be established.
Idiopathic scoliosis in adolescents is a three-dimensional structural abnormality, with lateral deviation and a rotation in the curvature of the spine that affects the health of young people around the age of puberty. This diagnosis is established only when other potential causes of scoliosis, such as vertebral deformities, neuromuscular abnormalities, or other syndromic disorders, have been ruled out. If any of these are the cause, it is called secondary scoliosis.
Idiopathic scoliosis is classified according to the age at which it appears: infantile (0-3 years old), juvenile (3-10 years old), and adolescent (over 10 years old).
Idiopathic scoliosis affects between 2% and 3% of young people between 10 and 16 years old (the age range with the most risk). Recently, in China, the percentage of children in this age range who suffer from this deformity has been shown to be up to 5.14%.
In scoliosis, as the severity of the curve increases, the number of sufferers decreases. Scoliosis with curvatures above 20 degrees affects between 0.3% and 0.5% of these individuals, and it is estimated that the proportion of patients who require surgical treatment does not exceed 0.1%.
Detecting scoliosis is generally done using the Adams Forward Bend Test, which, as its name implies, consists of the patient bending their torso forward, allowing a “hump” to appear, which is subsequently measured with a scoliometer. However, a definitive diagnosis cannot be made without measuring the angle on an X-ray in which the patient is standing up.
The most common forms of secondary scoliosis are those associated with neuromuscular diseases. Sometimes, the first sign of some of these diseases is scoliosis, and until it manifests, the scoliosis can seem idiopathic, but in reality, it is secondary.
Children and adults of all ages.
The paediatrician will be able to detect this condition, and then the rehabilitation specialist will be in charge of making the diagnosis and evaluating treatment options, in collaboration with the orthopaedic team and the physiotherapist, who will be the ones to follow up and monitor the progression of this deformity.
In adolescents, the progression of the curve is prevented using conservative treatment based on observation and the use of a corrective brace if the curvature progresses and surpasses 25 degrees.
To treat small curves that are at low risk of progression,physiotherapyis recommended.
Surgical treatmentis only used in specific cases, such as adolescents who have a primary structural curve greater than 45 degrees and adults who do not respond to conservative treatment.
To diagnose scoliosis, imaging tests such as conventional X-rays are carried out. Using these, the degree of the curvature can be precisely quantified. If another clinical symptom is associated with the deformity, an MRI will be requested.
Dystonia is a neurological disorder characterised by involuntary muscle contractions that cause repetitive movements and tortuous and painful stances every time the patient makes a learned movement, such as walking or speaking.
Dystonia that is detected in childhood can progress rapidly and interfere in the development of the child's language and mobility, causing a physical disability that will affect them throughout life.
Dystonia is a very heterogeneous disease, which can occur for a variety of reasons:
Due to its incidence, dystonia is considered a rare disease.
Dystonia in childhood can occur in isolation or associated with other neurological and development problems. It can cause difficulty in everyday tasks such as walking, speaking, feeding oneself and taking care of personal hygiene.
When presented in isolation it is called primary dystonia and often has a genetic origin. Children who suffer from it do not usually have other health problems and their neurological development is normal. At first it manifests itself in actions such as walking, running, or writing and, later, can spread to other parts of the body and cause widespread dystonia.
Myoclonic dystonia is one of the most frequent hereditary forms of dystonia in childhood. It is characterised by the presence of sustained (dystonic) and abrupt (myoclonic) muscle contractions and psychiatric disorders such as anxiety, depression and obsessive-compulsive features. The first symptoms appear in childhood and affect the lower limbs of children, who have difficulties walking, running and with sports. This disease also affects the social relationships of these children, who have problems speaking in public or eating and drinking with friends.
Dystonia can also be associated with other neurological problems, such as spasticity, ataxia, weakness, delay in neurological development and intellectual disability. In this case we call it secondary dystonia and it is necessary to rule out neurometabolic and neurodegenerative causes.
It affects children, adolescents, and adults of all ages.
First of all, patients are subjected to a series of clinical, metabolic, neurophysiological and neuroimaging studies to classify the type of dystonia, before carrying out genetic studies. In patients with myoclonic dystonia, first of all, a Sanger sequencing study is carried out to determine the gene that causes it, and in the other patients, a complete family exome sequencing(parents and patient) is carried out or the index case (patient) based on the DNA samples available.
Being a rare and very heterogeneous disease it is difficult to reach a correct diagnosis and treatment plan. It is important to distinguish hereditary dystonia from childhood cerebral palsy, caused by brain damage at birth, since its diagnosis has very important consequences for treating the disease later.
A diagnosis in time decreases the need to carry out more diagnostic tests, making it possible to form a prognosis and to advise families on avoiding future diseases. It also has a very positive psychosocial impact on the patient and family. And most importantly, an exact diagnosis of the cause that generates the dystonia makes it possible to guide the best possible treatment for each patient, in what we call personalised medicine.
Dystonia in childhood is progressive and debilitating, but can be prevented with early diagnosis and the use of specific therapies depending on the identified genetic defect.
Levodopa is the treatment of choice in dopa-sensitive dystonia, caused by a defect in the synthesis of dopamine. Botulinum toxin is used to control focal dystonia. In the case of widespread dystonia, different drugs are used to decrease tremors, muscle tone, and painful spasms. And in some cases of paroxysmal dystonia, which is characterised by brief and repetitive involuntary movements during the night, antiepileptic drugs are used.
An intrathecal baclofen pump administers liquid medication through a device that is placed under the skin, and is used to treat generalised secondary forms of dystonia. It reduces pain, decreases muscle tone and spasms. It is a treatment we call symptomatic and palliative, since it does not improve the motor function of the patient.
Deep brain stimulation or globus pallidus stimulation, two electrodes are placed in the globus pallidus using a stereotaxic technique, it is the treatment of choice in primary dystonia, especially if they are widespread and do not respond to conventional medication. In these cases children can recover the function of the area affected by dystonia and improve their quality of life. It can also be useful in patients with secondary forms of dystonia, although its effectiveness is less than in primary forms of dystonia.
Performing genetic testing is the best prevention to avoid having more children affected by this disease in the same family.
Associació de Lluita contra la Distonia Mioclònica a Espanya
Associació de Malalties Neurodegeneratives amb Acumulació Cerebral de Ferro
Associació GNAO Espanya
Poliomyelitis is a highly contagious disease caused by any of the three human poliovirus serotypes, which are part of the enterovirus family. Europe was certified free of poliomyelitis in June 2002. Immunisation and vigilance of the disease continue to ensure the region is free of poliomyelitis. Post-polio syndrome has no defined causal mechanism but it affects between 20% and 80% of patients afflicted with poliomyelitis.
Initial symptoms are those of a influenza-like illness (fever, headache, joint and muscle pain, vomiting, among other things) and can last up to 10 days. Its most serious forms may cause respiratory paralysis leading to death. Post-polio syndrome presents a new neurological weakness that may be progressive or abrupt on muscles previously affected or unaffected. It may or may not be accompanied by new health problems such as excessive fatigue, muscle pain, pain in the joints, intolerance to cold, reduced physical stamina and function, and atrophy.
It mainly affects children and the mechanisms for its transmission may be through faecal-oral channels or a common vehicle (contaminated water or food).
Post-polio syndrome affects patients who have had poliomyelitis for 20 years or more.
Diagnosis is given clinically, supplemented with laboratory and electromyographic (EMG) tests.
Symptomatic treatment with analgaesics, a ventilator where necessary, gentle exercise and possibility of orthopaedic devices to prevent deformities or to enable function.
In acute diagnoses, studying secretions, stools and cerebrospinal fluid. EMG in acute and later stages for diagnosing post-polio syndrome.
Poliomyelitis has no cure but it can be prevent by vaccination.
Cerebral palsy is a group of disorders affecting movement, posture and muscle tightness, caused by damage to the developing brain (in children up to approximately three years old). The severity of the symptoms varies widely: some patients can walk and lead independent lives, while others are more severely disabled. There may also be associated intellectual disabilities, problems with vision or hearing, problems when eating, seizures, etc.
These can be categorised according to the moment when the brain damage occurs: prenatal, perinatal and postnatal. Currently, the most frequent causes are: extremely premature birth, hypoxia of the brain during birth, and paediatric stroke.
In babies, we see slower psychomotor development, with difficulties in movements or activities. We usually see spasticity, which could be defined as increased tightness in a certain group of muscles. There are major musculoskeletal abnormalities, including spinal deformity, hip dislocation and ankle equinus.
Fundamentally clinical diagnosis, depending on the patient's history. But confirmation is needed by additional imaging tests such as cranial ultrasound and magnetic resonance imaging. However, these can be normal.
Unfortunately, there is no cure for cerebral palsy. However, we can deal with the pathology in different ways, both in prevention and in treatment:
No specific prevention is possible.
Apart from the physiotherapy and/or occupational therapy which can be offered or recommended to these patients, physical exercise can always be suggested, depending on the abilities of each person. We also recommend stretching certain muscle groups and trying to correct posture.
Low back pain is discomfort in the lower back, often caused by muscle, ligament, joint, or disc injuries. Early recognition, relative rest, heat application, and physiotherapy help relieve pain and prevent chronic complications.
Chronic lower back pain is defined as pain persisting for more than 3 months, and is one of the most frequent and costly musculoskeletal problems of modern society. It is estimated that up to 80% of the adult population will suffer from lower back pain at some time in their lives. The most common causes of chronic lower back pain include degenerative disc disease, lumbar facet arthrosis, spondylolisthesis, facet dysfunction, herniated disc, lumbar spinal stenosis, the after-effects of trauma or deformity, among others.
Pain in the lower back, which is usually mechanical in nature.
it can affect up to 80% of the population. In the case of younger people, it is usually caused by trauma and/or inflammation, while among the older population the cause is usually degenerative.
The main diagnostic tools are patient history and physical examination. They can be complemented by scans, which are helpful when considering invasive treatments.
Relative rest, local heat, medication, changes to activity. Once the acute pain episode is over, rehabilitation treatment can begin, with physiotherapy and back school therapy. There are cases where the causes of the pain indicate a need for surgery, and after more conservative therapies have been tried, an operation is required.
X-rays, tomography and MRI
Regular exercise and posture correction.
Arthrosis is a degenerative process characterised by lesions of the cartilage in joints. A joint is the area where a bone connects with another bone, allowing movement. Cartilage is a tissue that covers the joints, acts as a shock absorber for impacts, and also allows the joints to move without friction. Normally, this condition appears in the spinal column, neck, hip, knees, and hands.
The most common manifestation is pain that improves with rest, stiffness when initiating movement, deformities, and difficulty moving the affected joints. There can be a certain degree of inflammation, which will cause swelling due to the excessive accumulation of liquid in the joint.
However, it must be differentiated from arthritis, which is a rheumatic inflammatory disease rooted in joint inflammation that can cause pain which does not improve with rest. Arthrosis is often also called osteoarthritis, which can create some confusion.
This disease is very prevalent and has a high social and health impact. The EPISER2016 study, by the Spanish Society of Rheumatology, showed that the prevalence in the population over 40 years of age is 29%.
Age is the main risk factor. It is more frequent in women. A deterioration of the cartilage is clearly associated with obesity and a lack of regular physical exercise. A misaligned joint or poor posture can also be predisposing factors. Sometimes the cause is a traumatic injury or previous disorder of the affected joint. It has a genetic component (especially arthrosis of the hands).
A diagnosis is obtained by looking at the symptoms, physical examination, and the imaging tests.
Treatment for this disease is aimed at improving symptoms and quality of life for patients while slowing down its clinical evolution. A treatment plan must be individually prepared for each patient and type of joint.
Non-pharmaceutical treatment is essential. We recommend:
Pharmacological treatment normally consists of conventional pain relievers such as paracetamol, which is the analgesic treatment of choice. There are slow-acting treatments, such as chondroitin sulphate (taken orally) or hyaluronic acid (given as an injection), which can improve pain, especially in arthrosis of the knees. Surgery (joint replacement) is reserved for cases in which the joint is destroyed and other measures have failed.
Acute spinal cord injuries, both in adults and children, are a complex and significant health problem that negatively affects the patient in terms of morbidity and mortality, but that also has an impact on their personal environment.
The main symptoms are those derived from motor paralysis and lack of feeling below the area of the injury, and also and above all, effects on the autonomic nervous system which produce: changes to the cardiovascular and respiratory systems, to the urinary tract including changes to the capacity to store and evacuate urine, to the digestive system causing severe constipation, incontinence and faecal impaction, as well as changes to sexual function.
Treatment is integrated rehabilitation aimed at early intervention once the acute spinal cord injury has occurred in order to prevent complications and achieve the greatest functional independence possible in all physical, emotional and social aspects. Re-establish self-esteem by maximising the remaining abilities; encouraging the best social reintegration possible (active, independent and satisfying); and informing and advising the family to help them understand and manage the disability.
When it comes to young people, prevention of complex spinal cord injuries is focused on avoiding risky activities: reckless driving or driving under the influence of alcohol and drugs, diving into shallow water and dangerous sports such as climbing, MTB or skiing. In the case of adults, especially the elderly, it centres on eliminating risks to prevent falling such as carpets or heights, by using walking sticks and controlling medication to avoid orthostatic hypertension which can cause falls.
Parkinson's disease is a dysfunction of the basal ganglia caused by degeneration of the cells that produce dopamine in the substantia nigra.
It is a progressive neurodegenerative disease of the central nervous system that affects the parts of the brain involved in controlling and coordinating movement, muscle tone and posture.
The prevalence of Parkinson’s in Catalonia is 229 in every 100,000 people.
This is focused on empowering patients and their carers to achieve behavioural changes within their own control and to motivate them to continue treatment long term. It centres on reducing medication and gaining quality of movement. The main goal is functional independence for the individual and general physical condition from the onset of the disease. It is all geared towards minimising secondary complications and the risk of falls.
There are a growing number of studies emphasising that aerobic activity may have a neuro-protective effect. Likewise, during treatment, preventing inactivity, falling and fear of getting around or falling is stressed.
It is a cancer that develops in muscle and soft tissue. It can therefore be found in any part of the body, although most commonly in the head and neck, including the eye sockets. Despite being a rare cancer, as are all tumours in children, it is the most common cancer of the soft tissue found in childhood. This disease is more common in boys than in girls.
Although mainly found in the head and neck, it may also occur in the genitourinary system such as the bladder and prostate in boys and the vagina or uterus in girls. It may also appear in other places such as the limbs (arms and legs) and, less commonly, in the abdomen and around the genitals and anus. Symptoms vary depending on the location of the tumour.
More than half of all soft tissue sarcoma found in children are rhabdomyosarcoma. Most children are diagnosed under nine years old, but this type of cancer can appear at any age.
Different symptoms are produced depending on where tumours are located.
Malignant neoplasms are rare, but they are one of the most important causes of morbidity and mortality in this age group. Around 1,000 patients under 14 years of age are diagnosed with cancer every year in Spain. Rhabdomyosarcoma represents 6% of cancers in children meaning there are 60 new cases every year in Spain.
The child’s doctor will perform a very careful examination and to reach a diagnosis the doctor will request several tests, which may include:
These tests will help to determine the size and location of the tumour and whether it has spread to any other part of the body.
Rhabdomyosarcoma is a highly malignant type of tumour and must therefore be treated with a combination of therapies including surgery, chemotherapy and radiotherapy.
Each of these treatments is administered depending on the condition of the tumour and the age of the child.
There are currently no known measures to help prevent this type of tumour.
The concept of resistant osteoarticular infections encompasses all procedures on patients with infections that have not responded to previous medical and surgical treatment.
These procedures may be changing prostheses or treatment for chronic osteomyelitis or septic pseudoarthrosis among others.
The different types of resistant osteoarticular infections treated are:
Osteomyelitis/osteitis of haematogenous origin and which are resistant to medical and surgical treatment:
Chronic osteomyelitis or septic pseudoarthrosis derived from trauma or surgical interventions. Those resulting from open fractures, typically in the tibia, are often accompanied by loss of bone or the cutaneous covering. Exact incidence rates are not known, but the more exposed the bone has been, the higher the chances of chronic infection.
Periprosthetic infections. This type of infection occurs in 1-3% of primary arthroplasty procedures. In some cases, the only obvious symptom may be pain. The presence of a fistula or the isolation of a pathogen microorganism in different samples is used to confirm diagnosis. The most common treatment is to change the prosthesis in two separate procedures.
Severe treatment-resistant diseases of the soft tissue (necrotizing fasciitis, gangrene). These are extremely unusual lesions and when do they appear they are often fatal. Excessive localized pain may be the only initial symptom, making it very difficult to diagnose at this stage. When diagnosed, aggressive treatment with antibiotics and surgical debridement can have an impact on survival and the need for amputation.
Patient-related factors (control of additional diseases or disorders) are very important in the prevention of osteoarticular infection, as are those related to surgery (antibiotic prophylaxis), the presence of implants, and tissue condition (bone and cutaneous covering) amongst others.
This type of infection requires a multidisciplinary team as treatment is very complex.
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