Progressive muscular atrophy is a pathological process in which muscle fibers gradually decrease. The causes of the disease can be trauma, damage and genetic abnormalities. Many experts argue that the key etiological factor that serves as a trigger in the development of the disease is the lack of physical activity.
Symptoms of the disease include: decreased volume of one limb, general weakness and fatigue. Treatment of muscle atrophy abroad involves a combination of physical activity, drug therapy and surgery.
Causes of muscle atrophy
The pathological condition in question can develop under the influence of various provoking factors. Most often, muscle atrophy is observed in older people, which is associated with the natural processes of aging: metabolism slows down (metabolism in muscle tissue), physical activity decreases. But there are other reasons for the development of pathology:
- imbalance of the body’s hormonal balance - it can develop with pathologies of the pancreas and thyroid glands, adrenal glands and ovaries;
- diseases of the gastrointestinal tract;
- connective tissue pathology;
- peripheral nerve damage.
In some cases, hereditary diseases can provoke the problem - for example, spinal muscle atrophy is caused by genetic changes in the structures of the nervous system that make voluntary muscle contractions impossible. Such diseases manifest themselves as muscle problems already in early childhood. Often, muscle atrophy is the only pronounced sign of the disease, which must be taken into account in the diagnosis.
Nutrition and lifestyle play an important role in the development of muscle atrophy - a lack of vitamins and microelements in the body, alcohol abuse lead to the pathology in question over time.
Diagnosis of the disease
Muscular atrophy is diagnosed based on the following examinations:
- visual examination of the patient;
- general and detailed blood test;
- X-ray examination;
- computed and magnetic resonance imaging;
- establishing the level of nerve conduction;
- muscle biopsy;
- electromyography (determining the nature of muscle innervation).
The entire diagnostic complex listed above allows you to fully understand the state of the body, determine the diagnosis, cause and severity of the pathology.
Symptoms of muscle atrophy
Treatment of atrophy of the muscles of the legs and arms should be preceded by a diagnosis of the pathology. Doctors emphasize that it is necessary to pay attention to the following signs:
- rapid onset of fatigue;
- muscle weakness due to physical activity;
- decrease in muscle volume;
- difficulties when performing physical work.
Symptoms of muscle atrophy never appear acutely; they are characterized by a gradual increase. The pathology develops gradually, and years may pass before it is diagnosed. But a decrease in the volume of the affected muscle can be observed at an early stage of the development of the pathology.
Over time, atrophy of the thigh muscles leads to the inability to walk long and quickly, climb stairs, and even getting out of bed may be difficult.
With atrophy of the heart muscle, the patient complains of an uncontrolled increase or decrease in heart rate, sudden flushes of heat to the face, periodic numbness of the fingers of the upper extremities, shortness of breath during exercise, and then at rest. Atrophic changes in the heart muscle are considered the most dangerous, since in the absence of adequate treatment they can lead to death.
SMA mechanism
SMA is caused by a defect in the SMN1 gene. The SMN2 gene partially compensates for the loss of the SMN1 gene.
What's happening?
- The SMN1 gene is damaged and not normal
- Important proteins are not produced in sufficient quantities
- Motor neurons do not function properly and die
- Pulses are not recognized
- Muscles lose strength and atrophy
- Movement is limited, making moving, breathing and swallowing difficult
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Marina Lepina
Psychology
Diagnostics and assistance from specialists
When identifying symptoms that may indicate illness, a comprehensive examination is necessary to establish an accurate diagnosis.
Diagnosis: You should consult a neurologist, a specialist in neuromuscular diseases, who can make a diagnosis based on symptoms. To confirm the diagnosis, DNA diagnostics and genetic consultation are required.
Genetic diagnosis : DNA test to detect deletion of the SMN1 gene and determine the copy number of SMN2.
Additional research:
- Blood biochemistry: creatine kinase (CK) - normal in SMA I, normal or slightly increased in other types;
- Electroneuromyography shows a decrease in nerve impulses and helps differentiate SMA from other neuromuscular diseases. Sensory nerve conduction is usually normal.
Health care
Medical specialists:
- Neurologist makes a diagnosis, prescribes supportive treatment, and constantly monitors the progress of the disease.
- Geneticist - makes a diagnosis and, if necessary, advises the family on issues of further offspring.
- A local pediatrician (therapist) helps treat diseases that affect everyone.
- A pulmonologist or resuscitator helps identify and compensate for respiratory disorders, solve problems with coughing, and provides advice on respiratory support.
- Orthopedist - assesses disorders of the musculoskeletal system (contractures, deformities), determines the required scope of preventive measures, and helps correct these disorders.
- Neurosurgeon - deals with the correction of scoliosis.
- A physical therapist selects a set of exercises and habilitation procedures and teaches parents to regularly do them at home on their own.
- A nutritionist or dietician helps you choose the optimal diet.
- Gastroenterologist - helps in case of problems with the stomach and intestines.
- Cardiologist - monitors the functioning of the cardiovascular system.
- Palliative care specialist helps to comprehensively improve the quality of life.
- Other specialists are brought in as specific problems arise.
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Tatiana Gremyakova
Personal experience
Important aspects:
- Family-oriented approach
- the doctor takes into account the family’s opinion on all issues related to the treatment of the child, including the conduct of medical interventions and their volume, their acceptability and timing; - Focus on the patient’s quality of life
- before suggesting the use of any medical technologies to the family, it is necessary to consider how this will affect the quality of life, because it is important to live fully, and not to exist; - High-quality communication and full information
to the patient and family members about all aspects of SMA - as complete information as possible about the disease, what will happen and what will have to be faced, as well as how to cope with it; - Training in practical skills
for the care and use of medical equipment should be an integral part of medical care; - Interdisciplinary and multiprofessional approach
- the work of an interdisciplinary team is required (for example, it is impossible to limit yourself to the observation of a neurologist and receive the full range of necessary assistance for full support).
Helping organizations
The SMA Families Charitable Foundation is the only organization in Russia that specializes in helping families dealing with spinal muscular atrophy. It provides charitable, informational and psychological support to families, and advises specialists on the disease and methods of working with patients with SMA.
Hospice Assistance Fund "Vera". Charitable and advisory assistance to families with terminally ill children and terminally ill adults.
CSCH No. 1 Department of palliative care for children, Yekaterinburg, Sverdlovsk region. Medical, informational, social and psychological assistance is provided to families raising a disabled child with a palliative condition.
“Research Clinical Institute of Pediatrics named after Academician Yu.E. Veltishchev" FSBEI AT RNRMU named after N.I. Pirogov. The institute is located in Moscow. Residents throughout Russia can seek medical help for children with SMA and other neuromuscular diseases.
Clinic "Chaika". Consultations with pulmonologist Vasily Andreevich Shtabnitsky for children and adults with SMA.
Children's hospice “House with a Lighthouse” (Moscow, near Moscow region). Medical, psychological, legal, social, and charitable assistance to families with terminally ill children and young adults (up to 25 years of age).
Marfo-Mariinsky Medical Center (Moscow). Medical, psychological, legal assistance, nanny assistance, events, spiritual support, charitable assistance to families with terminally ill children.
Help for bedridden patients with SMA continued the topic, read about the main problems and complications in bedridden patients with spinal muscular atrophy, as well as solving these problems and planning offspring after a child with SMA was born in the family.
More detailed information can be found on the website of the charitable foundation “SMA Families” and their special project about living with spinal muscular atrophy. The special project is intended for those who have been diagnosed with SMA and would like to know all the most important things about this disease: which specialists and where to go, how to care, what to watch for, what to remember, what therapy exists today.
You may also be interested in learning about other genetic diseases:
Duchenne muscular dystrophy: what is it? How often and why does this disease occur, why pediatricians often confuse it with hepatitis, what to do if your child is diagnosed with this. Doctor of Medical Sciences, president of the Gordey charity foundation and grandmother of Gordey, a boy diagnosed with Duchenne muscular dystrophy, Tatyana Andreevna Gremyakova talks about what needs to be done to ensure that children with this diagnosis remain active for as long as possible and live a full life.
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DNA tests for ALS: what are they and is it worth doing them? Candidate of Biological Sciences Fyodor Konovalov talks about modern genetic tests for mutations in amyotrophic lateral sclerosis, their goals and interpretation of results
Treatment
If a medical professional is sure that a patient suffers from muscle atrophy, he must prescribe additional studies that will confirm or refute his assumption. Next, measures are taken to alleviate the person’s condition, and then complex therapy is prescribed to prevent the progression of the disease. If the disease is genetic in nature, it is not possible to completely recover from it, but modern drugs and techniques can slow down the process. Patients are prescribed medications, physiotherapy, and moderate physical activity.
The drugs are selected for each patient individually. Often this is a complex that includes anesthetics, anti-inflammatory and other solutions. This approach plays a primary role in treating a child. Therapeutic gymnastics and various procedures are also indicated.
