If you have had spinal muscular atrophy (SMA) for a while, you're probably aware of the key roles that occupational therapy and physical therapy play in maximizing your strength, endurance, mobility, and general physical performance — regardless of the type of SMA you suffer or how severe your condition is. We cannot emphasize enough how crucial it is to begin therapy as early as possible if you or your child has just received a diagnosis. Even though SMA is a degenerative condition, it does not always mean that you cannot live fully. Allied health specialists, such as occupational therapists and physical therapists, have traditionally played an important role in improving mobility and functioning for patients living with SMA.

At Suarez Physical Therapy, we have a team of certified physical therapists offering the best physical therapy services for Spinal Muscular Atrophy patients. Contact us today for more information or if you are seeking physical therapy services in Las Vegas, NV.

What is Spinal Muscular Atrophy?

Spinal Muscular Atrophy or SMA is a neuromuscular genetic disorder that develops when the Survival Of Motor Neuron 1 or SMN1 gene is damaged or lacking. This means that it is something you are born with as a result of a genetic anomaly. The SMN1 gene produces the survival motor neuron protein, which is essential for muscular functioning. The body then depends on the SMN2 gene to produce the necessary SMN protein, but SMN2 is not able to produce almost an adequate amount, leading to general weakness and several functional restrictions.

The degree of your condition varies depending on the number of the SMN2 gene copies you carry; we do not all have a similar number of the SMN2 gene copies. A milder condition and delayed symptom onset are typically associated with more duplicates of the gene.

SMA is distinguished by proximal (near the center) muscular weakness as well as weakness that is more prominent in the lowest extremities, the legs, than that of the upper body. More severe types of SMA, especially before treatment was accessible, could have a substantial influence on a patient's life expectancy because they compromise swallowing and breathing.

However, milder versions of SMA could be detected in a patient's 30s or 40s and cause problems while performing everyday activities such as walking or climbing stairs.

Currently, SMA screenings for babies are becoming more common. Early diagnosis and treatment could allow you to enjoy a healthy and happy life with only periodic appointments to see a neurologist. Similarly, people who begin treatment later (whether in infancy, adolescence, or adulthood) can hope to slow the progression of their condition, but they'll not normally regain skills that they have already lost.

Signs and Symptoms of Spinal Muscular Atrophy

Muscular weakness is a defining characteristic of SMA. Other issues are linked to muscle weakness, including:

  • Muscle wasting or muscular atrophy

  • Hand tremors

  • Reduced muscle tone, or hypotonia. The body of a child might seem flabby or limp

  • Involuntary tongue motions or tongue quavering

  • Lacking or significantly decreased profound tendon reflexes. For instance, knee-jerk reflex

  • Spinal deformity

  • Poor balance

  • Joints that are too tight, preventing them from bending, stretching, or even moving in any way

  • Respiratory ailments and lung disorders

SMA varies from person to person. The symptoms and progression of the disease vary depending on the form of SMA. SMA can start at any age, from birth to maturity. Typically, symptoms worsen and muscular strength declines as a patient grows older. A plateau, or a phase when the condition is steady, can occur for persons with SMA at various points in time.

The degree of function loss varies according to the severity of impairment. A decline in function may make it more difficult for someone to engage in certain activities. Although some patients with less acute SMA achieve a normal life span, infants with serious SMA could pass away as infants or during their childhood years.

Preliminary studies on the adoption of newly developed disease-modifying medications found that persons with SMA type 1 survive longer than patients who did not have access to these treatments.

Types and Diagnosis of SMA

The significance of Physical Therapy in SMA treatment is determined by several factors, such as the form of SMA you suffer from. Generally, the diagnosis is classified into five categories:

  • SMA Type 0 is prevalent during pregnancy and can cause miscarriages or fatalities by the age of 6 months. SMA type 0 newborns typically exhibit swallowing issues, abnormal breathing, respiratory failure, severe weakness, and malformed limbs. Infants with SMA 0 cannot sit up or roll over by themselves

  • SMA Type 1 is usually diagnosed before six months. The symptoms, including poor muscle tone, restricted movement, and issues with breathing, eating, or swallowing, progressively get worse. If not treated, SMA Type 1 frequently results in lethal respiratory failure within the second year; few infants with SMA Type 1 live the past 4 years of age

  • SMA Type 2 is often diagnosed between the ages of 6 to 18 months. While not as severe as babies with SMA Type 1, babies with SMA Type 2 also have trouble breathing and moving about. Without therapy, the condition can progress in different ways, but SMA Type 2 patients most often need wheelchairs for movement and have their early 20s as their average life expectancy

  • SMA Type 3 affects children above the age of 18 months, with leg weakness being the most common symptom. Toddlers with SMA 3 are capable of sitting, standing, and walking on their own. However, the defining symptoms include challenges with climbing stairs, running, or getting out of a seated posture. SMA 3 often has little effect on longevity if treated

  • SMA Type 4 is the adult-onset variant of the illness, appearing after the patient is 21 years of age. Severity varies across cases. The majority of SMA 4 individuals still can walk, although slowly but with decreasing stamina over time. Treatment can stop subsequent deterioration, but like all types of the condition, it can't prevent already-occurring muscular atrophy

How a Physical Therapist Can Help

Physical therapy evaluation is essential for determining how to treat children with SMA. A physical therapist will perform a thorough evaluation. In addition to a physical examination, your health history will be recorded. A lot of weight should be given to the following evaluation:

  • Body alignment and posture

  • Balance

  • Breathing function

  • capacity to operate against gravity and physical strength

  • Evaluating a person's functional as well as movement abilities, including their ability to roll, sit, walk, climb, and move from a chair, vehicle, or bed

  • Joint movement

  • Quality of life

  • The capacity to engage in activities with friends and family

Patients with SMA can achieve the best degree of independence as well as mobility with the assistance of physical therapy. It could aid in the delay or prevention of related issues. Physiotherapists work collaboratively with SMA-affected children, grown-ups, and families to create therapy plans that are tailored to each patient's needs. They collaborate with you to create goals focused on your interests, functions, and abilities. The efficacy of organized exercise regimens for patients with SMA to lessen disability and preserve mobility is backed by evidence.

Physiotherapy treatment for patients with SMA could include exercises to preserve and enhance general mobility and function. This includes fostering the development of abilities in young babies and infants like:

  • Crawling

  • Trunk and head control

  • Sitting

  • Rolling

  • Switching positions

Your child's physiotherapist will focus on tasks such as getting into or out of bed and pushing to stand. To develop more complex abilities like walking and climbing stairs, they could also assist your kid to improve coordination and balance.

Stop or slow the development of stiffness, joint abnormalities, and muscular shortening or tightness. You can learn particular flexibility or range-of-motion routines and positions with the guidance of physiotherapists. Additionally, they might suggest using braces, standing aids, or serial castings (to reshape disfigured joints or limbs).

Take care of bone issues and scoliosis. Physiotherapists work with patients to maintain proper spinal alignment and support throughout daily activities. To assist persons with SMA in maintaining proper posture and safeguarding their joints and bones, they devise treatment plans that may include braces and supportive sitting. Physiotherapy could be given both before and after surgical operations when scoliosis or any other joint issues brought on by SMA necessitate it.

Control any breathing difficulties. For persons with SMA, respiratory exercise training is crucial to preventing breathing issues. Additionally, it is essential both before and after undergoing a surgical operation. Physical therapists instruct parents and other caregivers on chest drainage techniques. They also assist you and your baby in developing coughing as well as breathing techniques to leave the lungs clean of mucus so they can breathe easily. Chest physiotherapy also incorporates core and respiratory exercises, as well as postural support using proper alignment. Additionally, they encourage using molded and customized wheelchair seating and sleeping setups.

Use assistive devices. To function, many patients with SMA require adapted or assistive technology, particularly after surgery. Physiotherapists collaborate with other professionals to identify and adjust appropriate devices to fit each individual's specific requirements. Physical therapists instruct clients and caregivers on how to use aids properly to help persons with SMA play, eat, walk, converse, and work. Wheelchairs, strollers, standers, walkers, and other assistive devices can be used to facilitate positioning and mobility. These technologies enable persons with SMA to become independent and active.

Build muscle and retain your aerobic fitness. Exercise can assist in the improvement of aerobic fitness in patients with SMA. Exercises are carefully chosen by physiotherapists to help SMA patients move and remain active.

Support standing. Physiotherapists assist individuals who are unable to stand unassisted in obtaining the necessary equipment to begin a daily standing routine at school or home. Children can interact with their peers face-to-face, and doing so enhances muscle performance and lessens the likelihood of joint stiffness.

Enhance performance during mealtime. To encourage good feeding, physiotherapists work collaboratively with speech as well as occupational therapists. To ensure that your child can eat safely and enjoy meals, they educate you on how to position and support their body and head. They might also give you tips on how to help with chewing and swallowing.

Many SMA child patients are put on special diets, sometimes under the guidance of a qualified dietician, because they have difficulty swallowing. Some SMA patients are fed via tubes to guarantee they receive adequate calories as well as a balanced diet (either via their noses or through a surgically inserted feeding tube). Some require tube foods to supplement their diet. Therefore, before beginning treatment on feeding, therapists and parents must get consent from the doctor.

Your baby's physical therapist will select activities, games, or other fun tasks to teach during therapy. Families are also taught positions and exercises to help them develop better daily routines at home. To prevent weariness, physiotherapists closely monitor exercises and activity degrees. They assist patients and caregivers in understanding how to decrease the danger of overtaxing muscles.

Aquatic therapy, often known as hydrotherapy (therapy that's given inside a pool)., is yet another treatment choice. Some physiotherapists specialize in aquatic treatment. To lessen the possibility of muscular fatigued muscles, they make use of the physical characteristics of water (like pressure and buoyancy). S MA patients can walk, stand, and move more effortlessly in water than they can on land because of buoyancy and reduced gravity. The support of water allows for strength, balance, as well as aerobic exercise. Even non-sitters can engage in hydrotherapy comfortably with the appropriate neck and head support and guidance.

How Can a Physical Therapist Assist Pre and Post-Surgery?

Surgery may be required for hip alignment, scoliosis, or to loosen up stiff joints in SMA patients. A physiotherapist will analyze you or your baby before every scheduled surgery. They will create a post-operative treatment regimen and make plans for the tools they will require. Because early activity following surgery is frequently recommended, creating a course of action before surgery is critical.

Soon after surgery, physiotherapists will perform another evaluation of you or your child. Physiotherapy should be resumed as early as possible to retain comfort, and muscular strength, and to educate patients about post-operative care. Physiotherapists also offer modified movement programs for the initial stage of recovery following surgery. Following surgery, longer-term physiotherapy enables continuous gains in movement and functioning.

Is It Possible to Prevent this Condition?

SMA is a genetic condition that is carried from a parent to their child. Many individuals have two variants of the SMN1 gene. Carriers are individuals who have one defective copy of the SMN1 gene and one healthy copy. Despite not having SMA, carriers run the risk of passing the faulty gene to their children. To get SMA, both parents should pass the genes to their offspring. Whether someone carries the defective SMA gene can be determined by a quick blood test. Many people are unaware they have the gene till their child is diagnosed with SMA.

All expectant mothers and their unborn children should receive quality prenatal care. If the mother is pregnant, a test can detect SMA in the unborn child. If SMA is identified during pregnancy, physiotherapists, as well as other medical professionals, can minimize problems that may arise during delivery, including:

  • Problems with feeding

  • Developmental delay

  • Limited range of motion

  • Scoliosis and abnormal posture

  • Breathing issues

  • Reduction in joint movement

Your physiotherapist is prepared to offer assistance so that you or your baby can lead a healthy life. Recently, several medications have boosted SMA patients' quality of life and enhanced treatment. Many states do SMA newborn screenings. Better results and potential have also resulted in modifications in physiotherapy guidelines.

What Kind of Physical Therapist Should I See?

All physiotherapists are educated and trained to help SMA patients. However, you might wish to consider:

  • A physiotherapist with knowledge in developmental, neuromuscular, and/or pediatric disorders. Physiotherapists that specialize in treating children and adolescents may work with your child at home, in school, or even in the community. Physiotherapists could also treat grownups in a clinic, at home, or in school

  • A physiotherapist with board certification as a professional expert or who has finished a fellowship, residency, or training in pediatrics or neurological physiotherapy. This physiotherapist possesses extensive knowledge, expertise, and abilities that may be useful in treating developmental issues like SMA

  • A skilled pediatric or neurology physiotherapist who collaborates with other medical professionals to offer SMA patients the best treatment possible

  • A physiotherapist with expertise with or a want to know more about different SMA Levels of Care, with an emphasis on treating newborns, children, or grown-ups with neuromuscular conditions

Find a Competent Physical Therapist Near Me

We at Suarez Physical Therapy are aware that receiving a Spinal Muscular Atrophy diagnosis can be distressing for you or your child. Our experienced pediatric physiotherapists can offer you rehabilitative treatments for a better chance of achieving mobility and overall function. We invite you to call us right away at 702-368-6778 if you are in Las Vegas.