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Spinal Muscular Atrophy and All About It

Medically reviewed by Sandeep Dhanyamraju

Spinal muscular atrophy, or SMA as a medical abbreviation, is a hereditary disease that occurs as a result of a mutation in a gene that is involved in the process of human movement. As a result of the disease, the destruction of motor neurons occurs. These neuronal cells are found in the brainstem and spinal cord. Their main purpose is to control the basic movement functions such as pulling, squatting, pushing, breathing, rotation and others.

The disease is of four different types. At the same time, the first types are found in very young patients and the latter types in older people.

It has been established that the younger the patient, the more difficult the spinal muscular atrophy. Such a disease as SMA is serious and requires urgent treatment, especially in children.

Without proper treatment, small patients do not live up to three years due to the fact that they cannot fully breathe.

In this article, we figure out what is spinal muscle atrophy, including factors that provoke its development, types of diseases, symptoms, as well as what treatments a doctor can offer patients.

 

What is Spinal Muscle Atrophy Definition?

Let’s find out the muscle atrophy definition. Spinal muscular atrophy, or SMA as its medical abbreviation, is a genetic disorder that affects the central and peripheral nervous systems. A lot of nerve cells responsible for the muscles’ work are located in the spinal cord. The disease is called muscular because its main destructive effect is on muscles that do not receive the necessary signals from nerve cells.

Such a disease as SMA is directly linked to the loss of important cells in the nervous system called “motor neurons” in the spinal cord and is referred to as “motor neuron disease.

The age at which a person may have the first symptoms of the disease is related to the degree of damage to the motor system. Thus, it is worth paying attention that the younger the person who has encountered a similar disease, the worse the consequences can be. Thus, if an infant has this problem, the chance of normal functioning is very low. While adults with this disease have a high chance of high functioning.

We have considered what spinal atrophy is, and now we should explain to you what are the common symptoms.

 

What are the Common Muscular Atrophy Symptoms?

What are the common muscular atrophy symptoms

The symptoms of SMA can be either mild or severe. Among the main muscular atrophy symptoms are:

  • Weakness of voluntary muscles, especially those closer to the center of the body, such as the muscles of the shoulders, hips, and upper back;
  • Loss of muscle control;
  • Deterioration of movement up to immobility.

It must be said that the symptoms of this disease may depend on its type. Some patients with SMA hardly walk and cannot even sit.

 

What can Cause Spinal Muscular Atrophy Syndrome?

As a rule, the cause of spinal muscular atrophy syndrome is the absence of part of the CMH1 gene, or it is mutated. When a healthy person has the CMH1 protein and is intact, they produce the CMH protein. And motor neurons function precisely due to this protein. Accordingly, if a person does not have this protein or part of a gene, or a mutation of these elements occurs he can get a disease of spinal muscular atrophy. It will lead to a decrease in motor functions.

It is also important to say that a person has CMH2 genes that produce the CMH protein. So, a person can have about eight copies of this gene. In this case, this leads to fewer complications because copies of these genes replace the missing CMH1 protein.

 

What is the Range of Spinal Muscle Atrophy Types?

What is the range of spinal muscle atrophy types

In fact, a wide range of types of this disease can be diagnosed in a patient.

So, a patient can have SMA of the following types:

  • 1st type, called Werdnig-Hoffman disease or SMA with an infantile onset;
  • 2nd type, which is an intermediate form;
  • 3rd type, which is called Kugelberg-Welander disease;
  • 4th type, which is called adult-onset SMA.

All of these types of diseases are caused by a mutation or absence of part of the CMH1 gene. This can be expressed both in a complex form in the birth of a child with difficulty breathing at birth or in a weak form, which is expressed in mild weakness in an adult.

 

Let’s take a closer look at each type of disease.

Type Description
SMA type 1 (Werdnig-Hoffmann disease or SMA with an infantile onset) Usually, this form of the disease manifests itself in children who are less than six months old. If the disease has severely damaged the child’s health, he may have restrictions in movement while still in the womb. So, the baby can be born already with contractures and heavy breathing. In this case, without proper treatment, the death of the child occurs about a year after birth. Contact us to get the consultation. 

Symptoms of this type in a child can be in the form of:

  • Reduced pressure and tone;
  • Limited mobility of limbs;
  • Absence of tendon reflexes;
  • Difficult breathing;
  • The presence of scoliosis or other anomalies of the spine and skeleton.

Children with spinal muscular atrophy type 1 will not be able to sit or stand on their own. And gradually, without treatment, a child with this type of disease dies at the age of 1-2 years. The reason is that he cannot fully breathe on his own, which leads to respiratory failure.

SMA type 2 (Intermediate form) This disease usually gives birth to a child between the ages of six months and one and a half years. Although the first symptoms of this disease may be noticeable to parents and doctors much earlier. 

Children with spinal muscular atrophy type 2 cannot sit or stand without the help of an adult. Without proper serious treatment, the child will not be able to perform these functions on his own. Also, among the signs of this disease, it can be noted that the child has difficulty breathing, including hyperventilation during sleep. The deterioration of the condition occurs variably without proper treatment. 

Children with spinal muscular atrophy type 2 live much longer than children with spinal muscular atrophy type 1. A patient with such a problem can live to adolescence, which is also negligible. If the child receives the necessary treatment, he may experience improvement in motor outcomes.

SMA type 3 (Kugelberg-Welander disease) If a child has it, the first signs may be noticeable in babies of the first years. Children can walk without additional help.

Among the other signs of this type include:

  • Difficulties in walking, running, and other manifestations of movement;
  • Damage to the proximal muscles of the legs;
  • Hand tremor;
  • Scoliosis;
  • Joint contracture (shortening of the muscles and tendons around the joints, which is caused by abnormal muscle tone and weakness);
  • Tendency to respiratory infections.

Despite the presence of the disease and the manifestation of symptoms, people diagnosed with spinal muscular atrophy type 3 can have approximately the same life expectancy as healthy people. Treatment of this type of disease helps to achieve good results in patients.

SMA type 4 (or adult-onset SMA) With this type of disease, symptoms may appear in patients as young as 21 years of age. Among the signs of this type of disease, doctors note the weakness of the proximal muscles of moderate severity and other symptoms that we talked about.

How is SMA Disease Diagnosed?

Usually, if this disease is suspected, the patient is analyzed to look for mutations or the absence of part of the CMH1 gene. A similar diagnostic method helps to identify whether a given patient is a carrier of a disease such as spinal atrophy of muscle of any type. Also, such an analysis shows whether the patient is a carrier of this disease, which may not be expressed in the patient himself, but be transmitted to children. The analysis performed to diagnose spinal muscular atrophy can show results with an accuracy of up to 95%.

 

The patient’s CMH1 gene does not have pathologies or the results of the examination. So, diagnoses are not typical for a disease such as spinal muscular atrophy. Then the patient may follow other methods of examination such as:

  • Electromyography, which is able to mark the electrical activity of the muscles during their contraction, as well as in a state of immobility;
  • Nerve velocity study, which helps measure the ability of a nerve to send electrical signals;
  • Muscle biopsy;
  • Other blood tests at the discretion of the doctor.

 

What is the Treatment for SMA?

It must be said that spinal atrophy of a muscle cannot be completely cured. However, in some cases, the right treatment can help the patient survive. In the case of infants, treatment can alleviate the patient’s condition, stop the development of complications of the condition, and help maintain the necessary processes.

What is the treatment for sma

As we have said, without treatment, young patients quickly die of respiratory failure. The reason is the younger the patient, the more pronounced the symptoms and the sooner treatment are needed. Consider the treatment options that are used to maintain the necessary functions and increase life expectancy in patients:

  • Science has approved nusinersen (Spinraza) as a drug. This drug is given to children by injection into the fluid that is in the spinal cord. This helps increase the production of the full-length CMH protein, which plays a major role in keeping motor neurons functioning. The benefit of this drug is quite large, especially in very young patients.
  • In 2019, scientists isolated a gene therapy using the onasemnogene abeparvovec-xioi. This method is used for children with spinal muscular atrophy, whose age is about two years. It delivers a working SMN gene to human motor neurons, improving muscle function, movement, and lifespan.
  • Physiotherapy and rehabilitation can also help the patient stop the decline in joint function and slow down the patient’s muscle weakness. A set of exercises designed by a doctor can help reduce the contracture and increase the range of motion, which will favorably affect the patient’s circulatory process.
  • Therapy aimed at eliminating problems with speech and swallowing.
  • Installation of supports, braces, orthopedic insoles, and wheelchairs can also help the patient begin to move independently.
  • The transition to proper nutrition and getting enough calories to maintain normal weight and strength is another important point in the treatment of spinal muscular atrophy in patients.
  • Insertion of special swallowing probes for patients who cannot do this on their own.
  • Setting up non-invasive ventilation at night can normalize the breathing of patients during sleep.

 

Lone Star Neurology Clinic is Always Ready to Help Patients Occur Their Disease

If you or your relative has such a problem as spinal muscle atrophy, you must visit a neurologist. We can advise you on our clinic Lone Star Neurology. Call us at (214) 619-1910, and make an appointment.

Our high-quality specialists can help you to diagnose and treat different neurological disorders such as:

Actually, it is not a complete list of our help. We deal with many diseases. We advise you to go to our website and read in more detail about our offers.

 

FAQ

  • How do you get spinal muscular atrophy?

A disease such as spinal muscular atrophy is a genetic disease and occurs as a result of a mutation in the CMH1 gene, which is responsible for the patient’s motor activity. The partial absence of this gene or its damage leads to the loss of normal function of movement, and respiration, and can lead to severe complications, especially in small children.

  • Is spinal muscular atrophy painful?

The pain that is present in patients with spinal muscular atrophy is comparable to that of osteoarthritis or chronic low back pain. Patients who have received this disease at a sufficiently adult age have a lower tendency to pain than children with the same disease.

  • Can you recover from spinal atrophy?

There is no cure for this condition. However, with the help of quality treatment, the patient may experience relief of symptoms, and his life expectancy can be significantly increased. Treatment is especially important for children, without treatment, a small child may not live to be a year old due to respiratory failure.

  • What is the life expectancy of someone with spinal muscular atrophy?

Usually, infants with a disease such as spinal muscular atrophy have the first type of the disease and die in the first year of life due to respiratory failure. Children with type 2 or 3 can survive into adolescence or even become full adults with quality treatment. Adults with stage 4 SMA can function normally and live fulfilling lives despite the disease, and their life expectancy is no less than that of healthy individuals.

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Edward Medina
Edward Medina
15:34 30 Jun 22
Just such an amazing staff that makes you feel like part of their family. I’ve been going there for over 5 years now... and each visit I get the very best care and treatments that I have ever received in the 20+ years that I’ve been dealing with severe debilitating migraines. Since i started seeing them the number of my migraines has dropped from 15-20 a month to 2-3 every 3 month. I highly recommend them …they will change your life!read more
Daneisha Johnson
Daneisha Johnson
22:20 19 May 22
Dr. Askari was very kind and explained everything so I could understand. The other staff were nice as well. I would... have gave 5 stars but I was a little taken aback when I checked in and had to pay 600.00 upfront. I think that should have been discussed in a appointment confirmation call or email just so I could have been prepared.read more
Jean Cooper
Jean Cooper
16:54 29 Apr 22
I love the office staff they are friendly and very helpful. Dr. JODIE is very caring and understanding to your needs... and wants to help you. I will go back. would recommend Dr. Dr. Jodie to other Patients in a heart beat. The team works well together.read more
Linda M
Linda M
19:40 02 Apr 22
I was obviously stressed, needing to see a neurologist. The staff was so patient and Dr. Ansari was so kind. At one... point he told me to relax, we have time, when I was relaying my history of my condition. That helped ease my stress. I have seen 3 other neurologists and he was the only one who performed any assessment tests on my cognitive and physical skills. At one point I couldn't complete two assessments and got upset and cried. I was told, it's OK. That's why you're here. I was truly impressed, and super pleased with the whole experience!read more
Leslie Durham
Leslie Durham
15:05 01 Apr 22
I've been coming here for about 5 years. The staff are ALWAYS friendly and knowledgeable. The Doctors are the absolute... best!! Jodie Moore is always in such a great mood which is a plus when you are already stressed. Highly recommendedread more
Monica Del Bosque
Monica Del Bosque
14:13 25 Mar 22
Since my first post my thoughts have changed here. It's unfortunate. My doctor and PA were great, but the office staff... is horrible. They never call you back when they say they will, they misinform you, they cause you too much stress wondering what's going on, they don't keep you posted. They never answer the phone. At this point I've left four messages in the last week, and I have sent three messages. Twice from their portal and one direct email. No response. My appointment is on Monday morning at 8:30am, no confirmation on my insurance and what's going on. What the heck is going on, this is ridiculous!I've given up... the stress her office staff has put me through is just not worth it. You can do so much better, please clean house, either change out your office staff, or find a way for them to be more efficient please. You have to do something. This is not how you want to run your practice. It leaves a very bad impression on your business.read more
Ron Buckholz
Ron Buckholz
23:32 23 Mar 22
I was actually pleasantly surprised with this visit! It took me a long time to get the appointment scheduled because no... one answers your phones EVER! After a month, I finally got in, and your staff was warm, friendly, and I was totally impressed! I feel like you will take care of my needs!read more
Steve Nabavi
Steve Nabavi
16:28 16 Mar 22
It was a nice visit. Happy staff doing all they can do to comfort the patients in a very calming environment. You ask... me they are earned a big gold star on the fridge. My only complaint they didn't give me any cookies.read more
Katie Lewis
Katie Lewis
16:10 10 Feb 22
Had very positive appointments with Jodie and Dr. Sheth for my migraine care. Jodie was so fast with the injections and... has so much valuable info. I started to feel light headed during checkout and the staff was SO helpful—giving me a chair, water, and taking me into a private room until I felt better. Highly recommend this practice for migraine patients, they know what they’re doing!!read more
Joshua Martinez
Joshua Martinez
16:02 10 Dec 21
I was scheduled to be checked and just want to say that the staff was fantastic. They were kind and helpful. I was... asked many questions related to what was going on and not once did I feel as though I was being brushed off. The front desk staff was especially great in assisting me. I'm scheduled to go back for a mri and am glad that I'll be going there.read more
Isabel Ivy
Isabel Ivy
21:42 03 Nov 21
I had such a good experience with Lone Star Neurology, Brent my MRI Tech was so awesome and made sure I was very... comfortable during the appointment. He gave me ear plugs, a pillow, leg support and blanket, easiest MRI ever lol 🤣 My 72 hour EEG nurse Amanda was also so awesome. She made sure I was take care of over the 3 days and took her time with the electrodes to make sure it was comfortable for me! Paige was also a huge help in answering all my questions when it came to my test results, and letting me know her honest opinions about how I should go forth with my treatment.read more
Leslie Luce
Leslie Luce
17:37 20 Oct 21
The professionalism and want to help attitude of this office was present from the moment I contacted them. The follow... up and follow through as well as their willingness to find a way to schedule my dad was above and beyond. We visited two offices in the same day with the same experience. I am appreciative of this—we spend a lot of time with doctors and this was top notch start to finish.read more
robert Parker
robert Parker
16:38 16 Apr 21
I love going to this office. The staff is friendly and helpful. The doctor is great. I am getting the best... neurological tests and treatment I have ever had. The only reason I did not give them a 5 star rating is because it is impossible to reach a live person at the office to reschedule appointments. Every time I have tried to get through to the office it says all people are busy and I am sent to a voicemail. If they could get their phone answering fixed, I would give them a strong 5 stars.read more
MaryAnn Hornbaker
MaryAnn Hornbaker
00:26 25 Feb 21
Dr. Harney is an excellent Dr. I found him friendly , personable and thorough. I evidently am an unusual case. ... Therefore he spent a Hugh amount of time educating me. He even gave me literature to further explain my condition and how to follow up. This is something you rarely get from your doctors. So I am more than please with my doctor and his staff.read more
Roger Arguello
Roger Arguello
03:05 29 Jan 21
Always courteous, professional. The staff is very friendly and always work with you to find the best appointment time.... The care team has been great. Always taking the time to listen to your concerns and to find the best treatment.read more
Margaret Rowland
Margaret Rowland
01:12 27 Jan 21
I have been a patient at Lone Star Neurology for several years. Now both my adult daughters also are patients there. I... love Jodie. She is always so prompt whether it is a teleamed call are a visit in the office. She takes the time to explain everything to me and answers all my questions. I am so blessed to have Jodie as my doctor.read more
Susan Miller
Susan Miller
03:01 13 Jan 21
My husband had an accident 5 years ago and Lone Star Neurology has been such a blessing to us with my husbands care.... Jodie Moore is his provider and she is amazing! Jodie is very knowledgeable, caring, and thorough. She takes her time with you, making sure your needs are met and she is happy to answer any questions you may have. Lone Star Neurology’s patients are very lucky to have Jodie providing their care. Thank you Lone Star Neurology and especially Jodie for everything you have done for us. Jodie, you are the best!read more
Windalyn C
Windalyn C
01:32 09 Jan 21
Jodie is wonderful. She is very caring and knowledgeable. I have been to over a dozen neurologists, and none were able... to help me as much as they have here. Thanks!read more
Katie Kordel
Katie Kordel
00:40 09 Jan 21
Jodi Moore, nurse practitioner, is amazing. I have suffered from frequent, debilitating headaches for almost 20 years.... She has provided the best proactive and responsive care I have ever received. My quality of life has been greatly improved by her caring approach and tenacity in finding solutions.read more
Ellie Natsis
Ellie Natsis
15:41 07 Jan 21
I have had the best experience at this neurologist's office! For over a year I have been receiving iv treatments here... each month and my nurse, Bobbie is beyond wonderful!! She's so attentive, knowledgeable, caring, and detail oriented. She makes an otherwise uncomfortable experience much more pleasant and definitely puts me at ease! She also helps me with my insurance,ordering this specialty medication and dealing with the ordering process which is no easy feat.Needless to say, she goes above a beyond in every way and I'm so grateful to this office and to Bobbie for all they do for me!read more
Matt Morris
Matt Morris
15:39 07 Jan 21
Let me start by saying that I have been coming here for years. Due to my autoimmune disease, I am in this office... once every three weeks for multiple hours at a time. The office is very clean and the staff very friendly. My only complaint would be there communication via phone. They aren't the best at responding if you leave a voicemail and expect a call back. I understand that this is prob just due to the sheer number of alls they receive daily. What I can say I like the best about the office are the people. Bobby who handles my infusions is great. I never have any issues with her setting up my infusions. She is very quick to reply to messages sent via text and if she were to leave then my whole opinion of the office may change. I also enjoy people like Matt, Lauren, and Jodi. I appreciate all that they do for me and without this team I'm not sure I would be as happy as I am to visit the office as frequently as I have to. Please ensure that these folks are recognized as they are what makes my visit to this office so tolerable :).read more
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