Spinal+Muscular+Atrophy

=**Spinal Muscular Atrophy** =

**Information about Spinal Muscular Atrophy**
>> Signs -- before birth, decreased fetal movement; at birth/within first few months, hypotonic (floppy) limbs, feeble movements of arms/legs, weak suck reflex, difficulties swallowing (together lead to poor nutrition/failure to thrive) >> Red flag -- Parents notice at 6 months when baby can't sit without support >> Prognosis -- death by 2 years due to respiratory failure >> >> __Type II:__ >> Signs -- weak, impaired movements of arms/legs (legs more impaired than arms) >> Red flag -- Parents notice around 9 - 12 months when child fails to crawl, stand or walk >> Prognosis -- most survive into mid/late adulthood, but with severe motor disability and increased risk for respiratory compromise >> >> __Type III__: >> Signs -- trembling muscles, fasciculations >> Red flag -- can stand/walk without help but have difficulty getting up from floor >> Prognosis -- most survive into adulthood and are able to remain mobile, at risk for respiratory infection >> >> Reference: http://www.ninds.nih.gov/disorders/sma/detail_sma.htm#181863251 >> >> http://www.ncbi.nlm.nih.gov/books/NBK1352/
 * 1) Spinal Muscular atrophy (SMA) is a disorder of progressive muscle weakness affecting 1 in 6000 people. It is an autosomal recessive disorder causing mutation of the SMN1 gene, which is important for formation of survival motor neuron protein (SMN). SMN is a maintenance protein for motor neurons. When there is too little SMN, motor neurons in the brain and spinal cord die causing the progressive weakness and atrophy of muscles characteristic of SMA. In some cases, the SMN2 gene, which works with SMN1 to form complete SMN in normal individuals, can produce complete SMN on its own. The number of SMN2 genes in each cell capable of producing full SMN, making up for the defective SMN1 gene, is how the different types of SMA are produced (See PDF link on right for table of SMA types, symptom characteristics, gene mutation, and life expectancy)[[file:SMA types table.pdf]]
 * __Type I__:
 * Resources for medical professionals to read more about types of SMA, as well as less common types not included here, and causes:
 * []
 * http://ghr.nlm.nih.gov/condition/spinal-muscular-atrophy
 * 1) Diagnosis is made when parents and/or medical professionals notice symptoms. The medical professional may recognize patterns of symptoms and suspect SMA but definitive diagnosis is made through genetic testing. Once a diagnosis is made, an evaluation is done to assess feeding, respiration, sleep, ADLs, and orthopedics (scoliosis, joint deformity, muscle weakness, etc) to determine the extent of the disease.
 * A resource for further information about diagnosis is:
 * 1) There is no treatment for SMA . Care is focused on management and depends on the type and severity of the disease.
 * Pharmaceuticals
 * Physical Therapy
 * ROM to prevent contracture; contracture management
 * Assistive Device training and mobility
 * Strength and endurance training
 * Cardiopulmonary
 * Occupational Therapy
 * Self care
 * Occupational activities
 * Adaptive equipment
 * Nutrition/diet
 * Ensure appropriate nutrition
 * Solid/liquid restrictions
 * Orthotist
 * Splinting
 * Surgical
 * Spinal fusion for scoliosis
 * Pelvic stabilization for chronic hip dislocation/subluxation
 * Resource for more information about physical and occupational therapy management:
 * []

Direct Services -- During first years after diagnosis
 * Initially identify and address current needs and deficits contributing to loss of function
 * Family education on diagnosis and prognosis in relation to function and everyday activities including mobility
 * Discharge to Consult when child meets ceiling of current physical potential

Consult Services -- After d/c from Direct Services
 * Address new deficits or decline in function
 * Check in on a scheduled basis OR Family can contact with new concerns

Areas to Target with Intervention:
 * Maintain Strength (UE & LE)
 * Contracture Prevention
 * Increase / Maintain trunk, head control and balance
 * Functional Activities & Mobility (child's participation and family strategies)
 * Cardiovascular Endurance

[[file:SMA - HEP.docx]]
Some key problem areas for SMA are varying degrees of muscle weakness in trunk and limbs which can cause contractures, spinal deformities, osteopenia, fractures, pain, limited mobility and ADLs. Contracture management and education to maximize joint protection should be a part of any treatment program. Maximum functional activity includes access to leisure, adaptive sport, and play activities. Regular exercise to maintain fitness, flexibility, and stamina should be encouraged. Traditional exercise has not been proven to be beneficial, so exercise should be targeted towards activities and positions that the individual will be performing throughout their day, and focus on strengthening those movements. Wheelchair use for longer distances is adequate to decrease fatigue, however many situations can be turned into exercise opportunities to maintain strength. Stairs, walking, cycling, swimming are all good options for strength and aerobic capacity. Light weights, sit ups, or other abdominal strengthening exercises with or without exercise balls or peanuts are useful in avoiding back injuries and improving posture. Tai Chi is and dance incorporate fun, balance, and stretching. Stretching should target the hips, thighs, low back, hamstrings and ankles on a daily basis if possible. Building this into a child’s routine is important to establish early.

__Type I (and some Type II)__ While Type I SMA is diagnosed in infancy, there are multiple activities families can participate in assisting their children both cognitive functions as well as physical and emotional. Balloons and feathers are great options for stimulating play time, as well as reaching games. Make sure to receive positioning, range of motion instructions, as well as seating systems for maximum function, mobility, and comfort from licensed therapists. Water therapy is an excellent option due to the buoyancy of the water allowing movement of the arms and legs that in other gravity positions may not be available. Water temperatures should be at least 90˚F and the child’s head may not go under or into the water.

Aspiration is common for kids with SMA, especially when eating or trying to manage their own secretions. Weight loss and assistive feeding are common. SMA Type I has difficulty coughing, respiratory therapy is very important in order to become educated on chest physiotherapy (CPT) in order to clear the lungs. Encouraging the child to blow raspberries and bubbles are some common ways to improve respiratory strength. See the above website for additional respiratory therapy options: BiPAP, Negativve Pressure Ventilation, mechanical, and ventilators.

__Type II (and some Type III)__ Work on positioning the child standing upright at the earliest age possible in order to assist respiratory function, bowel, movements, and encouraging mobility. Standing aids are and important component of this process and require a prescription from the physician. Some assistive devices and bracing systems are the traditional standing frame and/or parapodium, standing wheelchairs: for increased independence and mobility and have been used as early as 13 months of age. Reciprocating GaitOrthosis (RGO's) is also an option for a bracing system, as well as weight bearing knee ankle foot orthosis (KAFO’s) which have been found to work for children with Type II, and sometimes can facilitate taking a few steps. Light-weight manual wheelchairs can provide mobility, independence, and interaction with their own environment. They are able to use their own strength to propel their mobility. A power wheelchair allows for true independence and mobility. Type I, II, and sometimes III SMA diagnoses will eventually encounter scoliosis, which can possibly restrict breathing and pulmonary function. Custom seating arrangements, aids, and body jackets are some options for managing this condition. Diet should also be considered with this population and carefully managed with a physician and dietician due to excess weight gain impeding mobility.

__Type III__ Children with Type III SMA walk independently at some point during their life, so it is important to monitor their function for signs of needed assistance in early stages. Walkers, braces, and light-weight manual wheelchairs are just a few options to be considered. PT/OT/dieticians should be consulted as well. Orthotics are typically custom-fit and are able to grow with the child.

__Type IV: Adult Onset__ Adults are capable of expressing their weaknesses and limitations and are able to work with their therapists and physicians to develop the best program for their condition. Diet and nutrition are important aspects for this population.

Local Kansas City Resources:
Families of Spinal Muscular Atrophy -- Kansas City Chapter Address: P.O. Box 1214 Mission, KS 66222 Phone: (913) 262-6468 Email: kansas@fsma.org
 * Provides outlets for families to meet and share their experiences with SMA
 * Produce resources and conduct research (National Organization)
 * Events, Fundraisers and Conferences

Children's TLC -- SMA aquatic therapy group
 * Weekly therapist led aquatic therapy class for parents and children with SMA

** Evidence- Summary Table for Research Question: What are quality outcome measures to utilize for children with SMA? **
25 healthy children (14 female and 11 male), age range 9-30months, with typical development. || Examine the reliability and validity of the MHFMS on children ≤30months with SMA by assessing test-retest reliability in SMA children and assessing the age in which typically developing (TD) children will meet all criteria of the test. || There was excellent test-retest reliability in the SMA group for the MHFMS. Most TD children met all MHFMS criteria by 12months with most difficulty in performing >4 consecutive steps and rolling prone to supine over left side. These results suggest the MHFMS is a reliable test for children with SMA type II ≤30months. || Function Measure as measures of motor skill. Hypothesized that relationships will be found between; forced vital capacity and strength, spinal muscular atrophy type, and functional ability and concurrent validity, as well as convergent validity of the HFMSE will be established || High correlations were found between the HFMSE and the full GMFM, as well as when duplicated items were removed, and again with functional rating scale. Strong correlations were found between the HFMSE and forced vital capacity, knee flexion and extension strength as well as elbow flexion strength. The HFSME was also related with the genotype. Convergent and concurrent validity was established. -Mean administration time for the HFMSE was 12 minutes, making it clinically useful || 7 separate evaluators. || Determine intra-rater reliability of 4 common clinical outcome measures for children with SMA: (1) pulmonary function tests; (2)Richmond Quantitative Measurement System of muscle testing; (3)GMFM; (4) PedsQL All tests given in 4 separate visits associated with an overarching study. Outcomes were administered by the same evaluator in the first 3 sessions, and a different evaluator for the final session. || (1) Pulmonary Function Tests had good intra-rater reliability (correlation coefficients .81-.98) with best reliability for forced vital capacity (2) Richmond Quantitative Measures System of muscle testing showed very high reliability (correlation coefficients .93-.99) in isolation and combination (3) GMFM is highly reliable for both raw and percentage scores (correlation coefficients .96-.98) (4) PedsQL completed by parents had acceptable reliability (correlation coefficients .73-.84), not enough children able to complete the questionnaire themselves to test reliability ||
 * **Author** || **Source** || **Date** || **Title** || **Sample** || **Methodology/****Main Idea** || **Results** ||
 * Finkel, Hynan, Glanzman, Owens, Nelson, Cone, Campbell, Iannaccone || Pediatric Physical Therapy, 20(3):242-6 || 2008 || The Test of Infant Motor Performance: Reliability in Spinal Muscular Atrophy Type I || 11 infants with genetically confirmed SMA; 5 boys 6 girls || Interrater reliability of 17 PTs using 6 videotaped kids; test-retest after 1mo using 11 SMA confirmed kids || Interrater reliability had K value of 0.61; test-retest correlation coefficient for TIMP was 0.85; test scores not significantly different btwn the 2 sessions thus TIMP scores can be reliably obtained in infants with SMA-I ||
 * Krosschell, Kristin, Scott, Charles, Maczulski, Jo Anne, Lewelt, Aga, Reyna, Sandra, Swoboda, Kathryn || Muscle & Nerve, 44, 246-251 || 2011 || Reliability of the Modified Hammersmith Functional Motor Scale in Young Children with Spinal Muscular Atrophy || 22 children (13 female and 9 male), age range 9-30months, with genetically and clinically confirmed type II SMA.
 * Glanzman,. O'Hagen, McDermott, Martens, Flickinger, Riley, Quigley, Montes, Dunaway, Deng, Chung, Tawil, Darras, De Vivo, Kaufmann, Finkel || Journal of Child Neurology || 2001 || Validation of the Expanded Hammersmith Functional Motor Scale in Spinal Muscular Atrophy Type II and III || 70 patients with typical clinical features of SMA (37 with Type II, and 33 with Type III) were enolled from three different participating centers. \Overall age ranges were 8.0 years. 57% of the subjects were female, and 75% of subjects with Type III were ambulatory at time of initial assessment. All subjects were diagnosed with SMA before the age of 19 years. Subjects were excluded if they had unstable medical condition and severe respiratory compromise || The validation of the HFMSE was reported here by examining relationships between main morbidities related to muscle strength in SMA patients by using the HFMSE and the Gross Motor
 * Iannaccone, S.; Hynan, L. and AmSMART Group || Archives of Neurology || 2003 || Reliability of 4 Outcome Measures in Pediatric Spinal Muscular Atrophy || 38 children with clinical dx of SMA and confirmed by genetic testing. Ages 2 to 17, no other neurological pathologies or damage nor ventilatory or renal compromise. Recruited from 5 sites across the USA.

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