Spinal muscular atrophy (SMA) is a rare genetic disease that affects the part of nervous system which control muscle movements of the body. The nerve cells, called motor neurons, links the nervous system and muscle fibres. Most of these neurons are situated in spinal cord because of which the disease is named as Spinal muscular atrophy. When brain sends message to contract or relax a muscle, the message travels along the spinal chord and through the motor neurons it reaches to the muscle fibre and muscle movement takes place. SMA disorder deteriorates these motor neurons so the muscle fibres don’t receive signals from nervous system making the muscles very weak. Such weak muscles can affect breathing, swallowing, walking, head and neck control, and many more basic activities. There are various types of SMA disease ranging from mild to severe which can even cause death of the SMA victims.
SMA is a genetic disease as it is inherited from parents. Generally, parents have no symptoms of disease, but they still carry the defective gene. When the child gets two copies of defective gene, one from each parent, he/she gets affected by this deadly disease. Hence, when both the parents carry SMA causing genes, there are 25 percent chances of delivering a child with SMA. Unfortunately, SMA is an incurable disease. Medication and therapies can only treat the symptoms of the disease.
There are various types of SMA disease: type 1, type 2, type 3, and type 4.
Type 1: This is the most severe and dangerous form of SMA. It is also known as Werdnig-Hoffman disease. The disease may start either before birth or shortly after birth and the child continuously become weaker with every passing minute. The child with this illness can rarely survive to the age of two.
Type 2: This type of SMA, also known as chronic SMA, begins in childhood immediately after infancy. It is seen in children from 6 months to 18 months of age. The life of a person with type 2 disease is expected to last till their 20s and 30s.
Type 3: The type 3, also called as Wohlfart-Kugelberg-Welander or mild SMA, affects children after 18 months of age or as late as teenage years and usually they live long until they reach their adult years.
Type 4: This is a rare and milder type of SMA. It begins in adulthood. Usually, it affects adults in their 30s and 40s.
Symptoms of Type 1 SMA (infants):
Symptoms of Type 3 SMA (above 18 months):
Blood test: The blood test can detect the deletions in gene sequences. However, the test will not tell you the type of SMA. Once diagnosed the disease, physician can determine the type of SMA with the help of other physical factors.
Electromyogram (EMG): This test measures the electrical activity of a group of muscles or a single muscle. It can detect an abnormal electrical muscle activity because of neuromuscular conditions and other diseases.
Muscle biopsy: In this test, a small section of the muscle is removed and analysed to find out and confirm the disease.
Needle Biopsy: It is an alternative test to muscle biopsy. The test can be conducted by making a small cut in the skin instead of 2-3 inch cut made in muscle biopsy test.
Genetic test: Physicians perform genetic test on suspected SMA patients to find out and evaluate the faulty genes. The test and analysis is performed with the help of a blood sample.
Generally, a team of physicians from various fields like physiotherapists, pediatricians, respiratory physicians, neurologists, and therapists are requisite to improve the person’s quality of life who is suffering from this deadly syndrome. Basic treatments for SMA include pneumonia treatment, scoliosis treatment, orthotic supports, rehabilitation, treatment for respiratory infections, and genetic counseling.
There are various types of SMA disease: type 1, type 2, type 3, and type 4.
Type 1: This is the most severe and dangerous form of SMA. It is also known as Werdnig-Hoffman disease. The disease may start either before birth or shortly after birth and the child continuously become weaker with every passing minute. The child with this illness can rarely survive to the age of two.
Type 2: This type of SMA, also known as chronic SMA, begins in childhood immediately after infancy. It is seen in children from 6 months to 18 months of age. The life of a person with type 2 disease is expected to last till their 20s and 30s.
Type 3: The type 3, also called as Wohlfart-Kugelberg-Welander or mild SMA, affects children after 18 months of age or as late as teenage years and usually they live long until they reach their adult years.
Type 4: This is a rare and milder type of SMA. It begins in adulthood. Usually, it affects adults in their 30s and 40s.
Symptoms of Type 1 SMA (infants):
- Severe muscle weakness
- Poor muscle tone
- Weak cry
- Problem in breathing
- Problem in sucking, eating, and swallowing
- Unable to raise head
- Unable to sit without support
- Legs weaker than arms
- Chest may appear very skinny at the top
- Keep legs in the ‘frog’ position
- Always keep head tilted to sides because lack of neck muscles
- Can’t stand or walk without any support
- Soft and weak legs and arms
- Breathing problems
- Jolting of muscles in tongue, legs, or arms
- Absent or reduced muscle response
- Deformities of chest, hands, feet, and joints
- Many children develop scoliosis (abnormal curvature to one side) of spine
Symptoms of Type 3 SMA (above 18 months):
- Muscle weakness
- Many victims find it difficult to get up from sitting position or to walk
- Walk in an abnormal way
- Difficultly in running or climbing steps
- Can’t balance the body properly
- Trembling fingers
- Advancing limb weakness
- Difficulty in swallowing
- Muscle jerk
- Muscle weakness
- Tongue tremor
- Shivering of hands
- Respiratory problems
- Big belly
- Speech impairment
Diagnosis of Spinal muscular atrophy:
If any child or adult is found to have symptoms of SMA, then following diagnostic tests can confirm the disease.Blood test: The blood test can detect the deletions in gene sequences. However, the test will not tell you the type of SMA. Once diagnosed the disease, physician can determine the type of SMA with the help of other physical factors.
Electromyogram (EMG): This test measures the electrical activity of a group of muscles or a single muscle. It can detect an abnormal electrical muscle activity because of neuromuscular conditions and other diseases.
Muscle biopsy: In this test, a small section of the muscle is removed and analysed to find out and confirm the disease.
Needle Biopsy: It is an alternative test to muscle biopsy. The test can be conducted by making a small cut in the skin instead of 2-3 inch cut made in muscle biopsy test.
Genetic test: Physicians perform genetic test on suspected SMA patients to find out and evaluate the faulty genes. The test and analysis is performed with the help of a blood sample.
Treatment of Spinal muscular atrophy:
Till now, there is no exact cure or treatment for the disease. However, the disease’s symptoms can be healed to a certain extent with the help of treatment. The main goal of treatment is to avoid respiratory problems and give sufficient nutritional care to the patient since the disease can adversely affect the swallowing and breathing muscles. Physical therapy is an important factor in treatment of SMA to prevent abnormal curvature of the spine. A spinal muscular atrophy sufferer needs regular medical evaluations throughout his/her life span.Generally, a team of physicians from various fields like physiotherapists, pediatricians, respiratory physicians, neurologists, and therapists are requisite to improve the person’s quality of life who is suffering from this deadly syndrome. Basic treatments for SMA include pneumonia treatment, scoliosis treatment, orthotic supports, rehabilitation, treatment for respiratory infections, and genetic counseling.
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