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Spinal Muscular Atrophy Type 3

SMA

Spinal musular atrophies are a group of genetic disorders distinguished by progressive degeneration of anterior horn cells in the spinal cord. Proximal weakness of the extremities that may require use of assistive devices and minimal respiratory difficulties appearing between 18 months and 30 years of age are hallmarks of spinal muscular atrophy type 3, also known as Kugelberg-Welander disease.


Presentation
  • Type 1 Symptoms Present by 6 Months The most severe form of the disease, Type 1 SMA symptoms are present during infancy. Affected children will not acquire the power, the strength, and the endurance to sit up independently, to crawl, or to walk.[addygracefoundation.com]
  • -Also known as Werdnig-Hoffmann Disease -Weakness present at birth or prior to 4 months of age -Cranial nerve involvement may or may not be seen -Respiratory problems often with accessory muscles present for breathing -Do not transition away from belly[quizlet.com]
  • Severity of SMA is related to the number of SMN2 copies present. SMA type 1 patients usually have 2 copies of SMN2 , while type IV patients usually have 3-4 copies. Inheritance : Autosomal recessive.[genetics4medics.com]
  • There are four main types of SMA, which include the following: Type 1: Symptoms present by 6 months. This is the most severe form of the disease and present during infancy.[curascriptsd.com]
  • Deficiency of SMN protein occurs when a mutation (flaw) is present in both copies of the SMN1 gene — one on each chromosome 5.[mda.org]
Wheelchair Bound
  • Those with this type sometimes learn to walk and then lose that ability and become wheelchair-bound for life.[sandiegouniontribune.com]
  • Their physical growth develops at a normal pace though scoliosis (curvature of the spine) can become a big problem, especially when wheelchair bound. This is caused by a weakness in the muscles supporting the bones of the spinal column.[actsma.co.uk]
  • They typically have a normal lifespan; however, as with all forms of SMA, weakness gets progressively worse and they usually will be wheelchair bound. Type 4 SMA is an adult SMA, with symptoms beginning around age 35.[smasupport.com]
  • She was wheelchair-bound as a result of severe limitations of the upper and lower extremities. She was only able to direct her electric wheelchair by moving one finger. She did not report difficulties with swallowing or breathing.[dx.doi.org]
Fishing
  • I still hunt and fish and just found easier ways to do that. Life is a struggle and I know I overdo physical activities a lot. Getting out of a chair or off the ground takes all the energy I have. I also feel when it comes to SMA I am very lucky.[communitytable.parade.com]
Fasciculation of the Tongue
  • They will see if the muscles are floppy or flaccid, to check for deep tendon reflexes and muscle fasciculation of the tongue muscle.[medicalnewstoday.com]
  • These have included difficulty chewing and swallowing, sternocleidomastoid and trapezius weakness and atrophy, and fasciculations of the tongue.[healio.com]
Muscular Atrophy
  • Spinal muscular atrophies (SMAs) are neurodegenerative disorders caused by mutations in the survival motor neuron 1 (SMN1) gene.[symptoma.com]
  • Not yet recruiting Click for more information Spinraza in Adult Spinal Muscular Atrophy 17th October 2018 Conditions : Spinal Muscular Atrophy; Spinal Muscular Atrophy Type II; Spinal Muscular Atrophy Type 3 Intervention : Other: Observational study[treat-nmd.eu]
  • Treatment - Spinal muscular atrophy- type 3 Not supplied. Resources - Spinal muscular atrophy- type 3 Not supplied.[checkorphan.org]
  • What is spinal muscular atrophy (SMA)? Spinal muscular atrophy (SMA) is a group of genetic diseases that cause weakness and wasting in the voluntary muscles of infants and children and, more rarely, in adults.[my.clevelandclinic.org]
  • Best practice guidelines for molecular analysis in spinal muscular atrophy. Eur J Hum Genet. 2001;9(7):484-91. D'Amico A, et al. Spinal muscular atrophy. Orphanet J Rare Dis. 2011 Nov 2;6:71. doi: 10.1186/1750-1172-6-71.[genetics4medics.com]
Muscle Weakness
  • Swallowing muscle weakness : Infants with swallowing or sucking weakness can be fed with a gastrostomy tube. Back muscle weakness : Bracing has been found to be a good source of support in children with SMA, especially in preventing scoliosis.[curascriptsd.com]
  • Respiratory muscle weakness, which predisposes the majority of patients suffering from type 1 or type 2 to nocturnal hypoventilation, recurrent infections and respiratory failure, as well as swallowing difficulties and scoliosis, are usually absent in[symptoma.com]
  • Have muscle weakness which progresses very slowly Are very bright Face problems in balancing leading to falls Experience no change in life expectancy Signs and symptoms of juvenile spinal muscular atrophy include muscle weakness where the legs are much[kidbones.net]
  • Children with SMA may have muscle weakness and poor muscle tone, and may not reach milestones such as sitting or crawling.[rch.org.au]
  • Muscle weakness affects mainly the legs and hip muscles and progresses to the shoulders and arms. Difficulties walking, running, and climbing stairs are common. Finger trembling and scoliosis are also frequent.[link.springer.com]
Muscle Twitch
  • Other symptoms include: Muscle atrophy Muscle weakness Areflexia Trouble Breathing Thin muscle mass Trouble eating or swallowing Lack of head and neck control Involuntary facial twitching Atrophic muscle changes Muscle twitching Sensory neuropathies Difficulty[stemcellthailand.org]
  • twitches and weakness of limb muscles As the condition progresses: Weakness of the face and tongue muscles which may cause difficulties when swallowing and speaking Recurring pneumonia Some patients also develop enlarged male breasts (gynaecomastia),[thehumanthebody.com]
Muscle Hypotonia
  • Children can ambulate, but they have proximal muscle weakness and various degrees of muscle hypotonia and wasting. The lower extremities are often more severely affected than the upper extremities.[ispub.com]
Type A Personality
  • Meanwhile, Udani said the disease is genetically inherited and doesn’t selectively affect any particular type of person. “(The) causes are all genetic,” he said. “As of now, there is no known prevention.”[sandiegouniontribune.com]
Presentation at Age >18 Months
  • Kugelberg Welander spinal muscular atrophy (also known as Wohlfart-Kugelberg-Welander syndrome or mild SMA) is a milder form of SMA, with symptoms typically presenting after age 18 months. [1, 2, 3] SMAs were first described in the 1890s, by Guido Werdnig[emedicine.medscape.com]
Hand Tremor
  • They have delayed motor (physical) milestones, poor weight gain, weak cough, hand tremors, contractures (fixed deformities of joints) and scoliosis (curved spine).[rch.org.au]
  • Muscle cramps, facial fasciculations, hand tremor. Associated with type 2 diabetes and infertility.[patient.info]
  • He also had a hand tremor, sometimes visible, sometimes just felt, sometimes not evident at all, and we associated this with emotional moments – excitement, upset.[doofercall.blogspot.com]
Limb Weakness
  • Department of Neurology College of Medicine Hanyang University Abstract Wohlfart et al and then Kugelberg and Welander were concerned with patients suffering from proximal limb weakness that resembled muscular dystrophy, but the muscle biopsy and EMG[jkna.org]
  • As the disease progresses patients may notice limb weakness starting in the pelvis or shoulders, or weakness of the facial and tongue muscles. Symptoms of SMA-LED often develop in infancy or early childhood.[cedars-sinai.edu]
Flail Arm
  • Arm ALS; Progressive Muscular Atrophy; Monomelic Amyotrophy; Motor Neuron Disease; Asymptomatic ALS Gene Carriers; Healthy Controls Intervention : Sponsors : Johns Hopkins University; Massachusetts General Hospital; Emory University; Ohio State University[treat-nmd.eu]

Workup
  • Initial diagnostic workup should comprise serum creatine kinase (CK) levels, electromyography (EMG) and nerve conduction studies, while confirmation can be obtained by using molecular and genetic tests that will detect homozygous deletion of SMN1.[symptoma.com]
Excessive Drooling
  • Constipation is a common problem as is being able to control excessive drooling (secretions), and getting proper nutrition and calories for proper weight gain.[smasupport.com]

Treatment
  • TREATMENT PRECAUTION Please note that not all cases will qualify for treatment of Spinal Muscular Atrophy using enhanced neural stem cells.[stemcellthailand.org]
  • The treatment will now be being assessed for all types of SMA, with Spinraza… READ ARTICLE Biogen and Ionis Pharmaceuticals have announced that they have entered into a new collaboration to identify new antisense oligonucleotide drugs for the treatment[smatrust.org]
  • We’re also involved in innovative research that’s led to a true breakthrough in SMA treatment.[nemours.org]
  • Treatments for SMA It's not currently possible to cure SMA, but research is ongoing to find possible new treatments. Treatment and support is available to manage the symptoms and help people with SMA have the best possible quality of life.[nhs.uk]

Prognosis
  • However the prognosis is very good. The person with Type III may show difficulty with walking and/or getting up from a sitting or bent over position & negotiating stairs.[checkorphan.org]
  • SMA type 3 Prognosis and Life Expectancy The prognosis of SMA type 3 varies from one patient to another. However, the course is slowly progressive.[muscleatrophy.net]
  • Prognosis A wheelchair may be required during childhood for some patients (more commonly those with SMA3a), whilst others retain the ability to walk into adulthood (more commonly those with SMA3b).[orpha.net]
  • If you or your child has been told the diagnosis is SMA but it’s not the chromosome 5-related type, talk with your doctor and perhaps a genetic counselor to find out more about the genetics and prognosis for the particular SMA involved.[mda.org]

Etiology
  • Etiology As for other forms of SMA, SMA3 is primarily caused by deletions in the SMN1 gene (5q12.2-q13.3) encoding the SMN (survival motor neuron) protein.[orpha.net]
  • […] achieved, as follows: Type I (Werdnig-Hoffmann disease) - Onset between birth and age 6 months Type II - Onset between the ages of 6 and 12 months Type III (Kugelberg-Welander disease) - Onset between the ages of 2 and 15 years Type IV - Adult onset Etiology[emedicine.medscape.com]

Epidemiology
  • Summary Epidemiology Prevalence is estimated at around 1/375,000. Clinical description The disease manifests after 12 months of age (usually between childhood and adolescence), after ambulation has been acquired.[orpha.net]
  • Epidemiology Prevalence is estimated at around 1/375,000. Clinical description The disease manifests after 12 months of age (usually between childhood and adolescence), after ambulation has been acquired.[rarediseases.info.nih.gov]
  • The book also provides updated epidemiologic and statistical data throughout and includes a section on biostatistics in physical medicine and rehabilitation.[books.google.de]
  • Epidemiological data on Werdnig-Hoffmann disease in Germany (West- Thuringen). Hum Genet. 1993 Apr. 91(3):295-7. [Medline]. Hausmanowa-Petrusewicz I, Zaremba J, Borkowska J.[emedicine.medscape.com]
Sex distribution
Age distribution

Pathophysiology
  • Related Medscape Reference topics: Focal Muscular Atrophies Spinal Muscle Atrophy Spinal Muscular Atrophy Related Medscape resource: Resource Center Spinal Disorders Pathophysiology Spinal muscular atrophy (SMA) is caused by successive motor unit degeneration[emedicine.medscape.com]
  • Pathophysiology Spinal muscular atrophy (SMA) types I-III Inheritance is autosomal recessive. Affected individuals have two copies of the altered gene. Those who carry one copy are usually unaffected carriers.[patient.info]

Prevention
  • SMA cannot be prevented, but prospective parents can request genetic testing if they may be carriers. Types There are different types of SMA.[medicalnewstoday.com]
  • Prevention - Spinal muscular atrophy- type 3 Not supplied. Diagnosis - Spinal muscular atrophy- type 3 Not supplied.[checkorphan.org]
  • See Patient Stories » At Nemours, we’re actively researching new approaches for childhood disease prevention, diagnosis and treatment. Learn more about your child’s medical condition from the experts at Nemours’ KidsHealth.[nemours.org]
  • Two major decisions must be made with Type I children...whether or not to insert a feeding tube to prevent pneumonia and prevent starvation when they have lost their ability to suck or swallow; and whether or not to put them on a ventilator or other breathing[smasupport.com]
  • The first 2 options are preventative in nature and can be done using blood,tissue or genetic samples at a prenatal testing lab. The last option is for those that are alive but displaying symptoms of the disease.[stemcellthailand.org]

Summary

Spinal muscular atrophies (SMAs) are neurodegenerative disorders caused by mutations in the survival motor neuron 1 (SMN1) gene. Progressive destruction of neurons located in the anterior horn of the spinal cord develops as a result of homozygous deletion of specific segments (exon 7) on SMN1 through autosomal recessive patterns of inheritance [1]. SMAs are estimated to occur in 1 every 10,000 births and type 3 (known as Kugelberg-Welander disease) comprises about 30% of all cases [1] [2]. The onset of symptoms ranges between 18 months - 30 years of age, and further classification divides type 3 into type 3a (onset between 18 months and 3 years) and 3b (onset between 3-30 years) [1]. Progressive weakness of proximal limbs, more commonly involving the legs than arms, is a typical finding that may be severe enough to require use of a wheelchair or walking aids [3]. Respiratory muscle weakness, which predisposes the majority of patients suffering from type 1 or type 2 to nocturnal hypoventilation, recurrent infections and respiratory failure, as well as swallowing difficulties and scoliosis, are usually absent in type 3 individual, and life expectancy is rarely shortened by complications of the disease [1] [3] [4]. Additional signs of SMA type 3 are joint pain and preserved cognitive skills [3]. Initial diagnostic workup should comprise serum creatine kinase (CK) levels, electromyography (EMG) and nerve conduction studies, while confirmation can be obtained by using molecular and genetic tests that will detect homozygous deletion of SMN1 [4] [5]. Treatment focuses on symptomatic measures, mainly to provide support when walking or experiencing symptoms of weakness, while more severe measures (insertion of feeding tubes or assisted ventilation) are rarely necessary, and are reserved for more severe forms of SMA (types 1 and 2) [1] [4] [5].

References

Article

  1. Arnold WD, Kassar D, Kissel JT. Spinal Muscular Atrophy: Diagnosis and Management in a New Therapeutic Era. Muscle Nerve. 2015;51(2):157-167.
  2. Sugarman EA, Nagan N, Zhu H, et al. Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens. Eur J Hum Genet. 2012;20(1):27-32.
  3. Kolb SJ, Kissel JT. Spinal Muscular Atrophy. Neurol Clin. 2015;33(4):831-846.
  4. Wang CH, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-1049.
  5. Prior TW. Spinal muscular atrophy diagnostics. J Child Neurol. 2007;22(8):952-956.

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Last updated: 2019-06-28 09:41