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Adult Spinal Muscular Atrophy

Atrophy Myelopathic Muscular

Adult spinal muscular atrophy is a genetic neurodegenerative disorder characterized by muscle wasting and weakness. In adults, normal life expectancy is achieved, as only mild weakness may be encountered. The diagnosis rests on confirming genetic mutations.


Presentation

Adult spinal muscular atrophy or spinal muscular atrophy (SMA) type 4 usually begins to appear at 30 years of age and has a relatively benign course [1]. The clinical features of this disease are very similar to SMA type 3, although the adult version is less severe. Life expectancy is normal in such patients [2]. Type 1 and type 2 SMA can occur at any age between birth and 2 years.

Patients classically present with an asymmetric weakness of the proximal muscles of the arms and legs, resulting in hampering of the quality of life [3]. Over time, the muscle wasting spreads to the other limb muscles before involving the central portions of the body. The weakness is associated with pain, in both the normal and affected muscles. Tremors and twitchings are also known to occur [4].

Involvement of the muscles of the thorax may result in respiratory compromise. The affliction of the brainstem may lead to bulbar symptoms such as dysphagia and dysarthria. There are usually no other central nervous system manifestations present. Reports have shown that these patients exhibit a higher degree of intelligence.

The examination may show all the characteristic findings of a lower motor neuron disease, namely absent/decreased reflexes, hypotonia, flaccid paralysis and muscle fasciculations.

Difficulty Walking
  • The mobility component is paid to people who have difficulty walking and in using public transport; the personal care component is paid to those who need help with such tasks as bathing and dressing.[daneverard.co.uk]
  • Someone with the condition may have: weakness in the hands and feet difficulty walking shaking and twitching muscles Type 4 SMA gets slowly worse over time, but doesn't normally cause problems with breathing or swallowing.[nhs.uk]
  • walking Breathing and swallowing difficulties are very rare and the condition does not usually affect life expectancy Over time, muscles become weaker resulting in children potentially losing their ability to walk when older SMA type IV – adult onset[thehumanthebody.com]
  • These children show signs of clumsiness, difficulty walking, mild muscle weakness, and may be developmentally delayed. These children live long into their adult years.[chw.org]
  • These children show signs of clumsiness, difficulty walking, mild muscle weakness, and may be developmentally delayed. These children live long into their adult years. Type IV.[stanfordchildrens.org]
Pain
  • The weakness is associated with pain, in both the normal and affected muscles. Tremors and twitchings are also known to occur. Involvement of the muscles of the thorax may result in respiratory compromise.[symptoma.com]
  • We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: May 13, 2019[patientslikeme.com]
  • Stretches should not be painful. Tension or pulling may be felt but not pain. Arms should be regularly checked to maintain a good range of movement, particularly in the shoulders when muscle weakness prevents full elevation of the arms.[daneverard.co.uk]
  • When stretching you may feel tension or pulling, but stretches should not be painful. If you do have any pain when stretching do talk to your doctor or physiotherapist.[smasupportuk.org.uk]
  • Turning the tide demands improvements to pain care, mental health care and medication-assisted opioid addiction care, researchers say. The probiotic ingredients market is projected to grow at a CAGR of 8.5%.[pharmpro.com]
Unable to Stand
  • These benefits are all felt even if the individual is unable to stand completely upright. Respiratory Function Breathing exercises and effective coughing should be taught at an early stage.[daneverard.co.uk]
Wheelchair Bound
  • 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]
Respiratory Insufficiency
  • One patient showed tongue fasciculations and respiratory insufficiency. Electrophysiological studies showed patterns of lower motor neuron disease and genetic test showed P56S mutation of VAPB gene.[neurology.org]
  • Etiology Pathophysiology Clinical features The most common causes of death among patients with SMA are respiratory insufficiency (due to respiratory muscle weakness ) and aspiration pneumonia (due to bulbar weakness)![amboss.com]
Constipation
  • The patient also had severe chronic constipation for many years. More recently she had developed unremitting diarrhea.[ncbi.nlm.nih.gov]
  • The most common side effects found in participants in the clinical trials on Spinraza were upper respiratory infection, lower respiratory infection and constipation.[news-medical.net]
  • 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]
  • Common side effects include a higher risk of respiratory tract infection and constipation. There may also be a risk of bleeding and kidney problems.[medicalnewstoday.com]
Dysphagia
  • The affliction of the brainstem may lead to bulbar symptoms such as dysphagia and dysarthria. There are usually no other central nervous system manifestations present. Reports have shown that these patients exhibit a higher degree of intelligence.[symptoma.com]
  • Dysphagia may be present. Most children are confined to a wheelchair by age 2 to 3 yr. The disorder is often fatal in early life, frequently resulting from respiratory complications.[merckmanuals.com]
  • As the condition progresses, it may cause other symptoms, including: weakness of the facial and tongue muscles, which may cause difficulty swallowing ( dysphagia ) and slurred speech recurring pneumonia (infection of lung tissue) Some people with Kennedy[your.md]
  • […] associated with names of investigators such as Santavuori-Haltia, Jansky-Bielschowsky, Batten, Spielmeyer-Vogt, Kufs Opitz G/BBB Syndrom ( 1 Files ) Erkrankung : Opitz G/BBB Syndrom ICD 10: Q87.8 Synonyme : Hypertelorism-hypospadias syndrome, hypospadias-dysphagia[orphananesthesia.eu]
Diarrhea
Delayed Gastric Emptying
  • Gastrointestinal studies showed no evidence of peristaltic contractions in the rectum, delayed gastric emptying, and abnormal jejunal manometry with altered propagation of the migrating myoelectrical complex.[ncbi.nlm.nih.gov]
Muscular Atrophy
  • Differential diagnosis usually involves the other spinal muscle atrophies which include the X-linked spinal muscular atrophy, distal spinal muscular atrophy, autosomal dominant spinal muscular atrophy and juvenile asymmetric segmental spinal muscular[symptoma.com]
  • atrophy Spinal muscular atrophy Spinal muscular atrophy Spinal muscular atrophy Spinal muscular atrophy Spinal Muscular Atrophy 3 Spinal Muscular Atrophy Association of Australia Inc. spinal muscular atrophy I spinal muscular atrophy III spinal muscular[medical-dictionary.thefreedictionary.com]
  • Diagnosis - Adult-onset spinal muscular atrophy Prognosis - Adult-onset spinal muscular atrophy Treatment - Adult-onset spinal muscular atrophy Resources - Adult-onset spinal muscular atrophy Not supplied.[checkorphan.org]
  • For more information, please review our Spinal Muscular Atrophy Resources.[griswoldhomecare.com]
  • Abstract There are multiple symptoms that affect adults with spinal muscular atrophy (SMA). The extent of these symptoms and their impact on individuals' lives is not fully known. We interviewed 15 adults with genetically confirmed SMA.[ncbi.nlm.nih.gov]
Muscle Weakness
  • SMA4 is usually considered in an adult who begins to have proximal muscle weakness. Genetic testing of the SMN1 gene is used to confirm the diagnosis. Muscle weakness seen in SMA4 is similar to the muscle weakness seen in other genetic conditions.[resourcerepository.org]
  • SMAPAD is characterized by proximal muscle weakness that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third decade) and a benign course.[uniprot.org]
  • The nerve cells tend to cause muscle weakness, tremor, and twitching. Common symptoms reported by people with spinal muscular atrophy adult type Reports may be affected by other conditions and/or medication side effects.[patientslikeme.com]
  • Arms should be regularly checked to maintain a good range of movement, particularly in the shoulders when muscle weakness prevents full elevation of the arms.[daneverard.co.uk]
Myopathy
  • Over the years, patients labeled earlier as SMA have had their diagnoses revised to more treatable conditions including syringomyelia, amyotrophic lateral sclerosis, myopathy, axonal neuropathies and herniated lumbar discs.[symptoma.com]
  • , Multicore myopathy, Multiminicore myopathy, Minicore myopathy with hand involvement, antenatal onset minicore myopathy with arthrogryposis, Minicore myopathy with external ophthalmoplegia, Multicore myopathy with external ophthalmoplegia, Multiminicore[orphananesthesia.eu]
  • Differential diagnosis Motor neurone disease Primary lateral sclerosis Muscular dystrophy Congenital myopathies Disorders of carbohydrate metabolism ( glycogen storage diseases ) Myasthenia gravis Poliomyelitis Investigations Blood tests Creatine kinase[patient.info]
  • The symptoms of spinal muscular atrophy may resemble other problems or medical conditions and can be confused with other muscle or nerve conditions, including muscular dystrophy, myopathy, other spinal muscular atrophy variants or even forms of amyotrophic[massgeneral.org]
  • The database (known as the UMD-SMN1 France database) is financed by AFM (Association Française contre les Myopathies) and is a result of a major national effort involving all French molecular diagnostic laboratories and reference centers for neuromuscluar[treat-nmd.eu]
Muscle Twitch
  • The disorder slowly progressed to include cramps and muscle twitches.[ncbi.nlm.nih.gov]
  • twitching first noted in late teens or early adulthood There are other diseases that are similar to spinal muscular atrophy, but have different genetic causes.[togetherinsma.com]
  • 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]
  • twitching first noted in late teens or adulthood To learn how different aspects of care may relate to the signs and symptoms of SMA, click here.[togetherinsma-hcp.com]
  • The initial symptoms of Kennedy’s syndrome may include tremor (shaking) of the hands, muscle cramps on exertion, muscle twitches and weakness of the muscles of the limbs.[your.md]
Proximal Muscle Weakness
  • Symptoms typically do not occur until after age 30 and include weakness in the muscles that are closest to the center of the body (proximal muscle weakness), which include the upper arms and legs.[resourcerepository.org]
  • SMAPAD is characterized by proximal muscle weakness that begins in the lower limbs and then progresses to upper limbs, onset in late adulthood (after third decade) and a benign course.[uniprot.org]
  • muscle weakness and atrophy.[medical-dictionary.thefreedictionary.com]
  • Type IV spinal muscular atrophy can be recessive, dominant, or X-linked, with adult onset (age 30 to 60 yr) and slow progression of primarily proximal muscle weakness and wasting.[merckmanuals.com]
  • muscle weakness and absent or markedly decreased deep tendon reflexes.[onlinelibrary.wiley.com]
Fear
  • Some adolescents and adults also express fear that they will not be able to get up after falling. These are real concerns that need to be discussed.[griswoldhomecare.com]
  • A lightweight wheelchair, when walking gets difficult and trips out are limited by the fear of falling and being unable to manage steps etc., can improve the quality of life. The quality of wheelchair seating is very important from the start.[daneverard.co.uk]
  • : Keeping Jeffrey’s Memory Alive by Starting a New Chapter Columns, Five Servings of Strength- a column by Michael Casten When Times Become Harder, Gathering Support Is Essential Sponsored Articles Sometimes we tend to limit ourselves in life out of fear[smanewstoday.com]
  • When walking becomes difficult, a wheelchair can improve your quality of life by reducing fatigue and any fear of falling. Wheelchairs are provided by NHS wheelchair services or may be bought privately.[smasupportuk.org.uk]
Tremor
  • Tremors and twitchings are also known to occur. Involvement of the muscles of the thorax may result in respiratory compromise. The affliction of the brainstem may lead to bulbar symptoms such as dysphagia and dysarthria.[symptoma.com]
  • The nerve cells tend to cause muscle weakness, tremor, and twitching. Common symptoms reported by people with spinal muscular atrophy adult type Reports may be affected by other conditions and/or medication side effects.[patientslikeme.com]
  • Other symptoms include tremors, twitching, and mild breathing issues. SMA4 is caused by changes (mutations) in the SMN1 gene. This gene provides the instructions to make a protein that helps motor neurons work.[resourcerepository.org]
  • Symptoms – Children can stand alone and walk, but may struggle with: getting up from a sitting position tremor in fingers respiratory infections Children with SMA Type III usually remain mobile well into adulthood.[griswoldhomecare.com]
  • […] usually able to sit unattended, but cannot stand or walk without assistance Weak respiratory muscles, which can inhibit coughing Breathing problems Weakness in the muscles of the arms and especially of the legs Swallowing and feeding problems Slight tremor[thehumanthebody.com]
Limb Weakness
  • 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]
  • weakness, hypotonia Bulbar palsy Late Microcephaly Oculomotor defects: strabismus, nystagmus, oculomotor apraxia Cognitive defects Life expectancy 1 year Diagnostics Genetic testing : best initial and confirmatory test Further tests Laboratory tests:[amboss.com]
  • In addition to muscle weakness, clinical features include head lag, poor sucking and swallowing, weak cry, proximal limb weakness, and lack of reflexes. Affected children never raise their head, roll over, or walk.[encyclopedia.com]
Hyporeflexia
  • Affected infants have hypotonia (often notable at birth), hyporeflexia, tongue fasciculations, and pronounced difficulty sucking, swallowing, and eventually breathing.[merckmanuals.com]
  • Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness.[amboss.com]
Flaccid Paralysis
  • The examination may show all the characteristic findings of a lower motor neuron disease, namely absent/decreased reflexes, hypotonia, flaccid paralysis and muscle fasciculations. Diagnosis of this disease is dependent on the anamnestic data.[symptoma.com]
Dysarthria
  • The affliction of the brainstem may lead to bulbar symptoms such as dysphagia and dysarthria. There are usually no other central nervous system manifestations present. Reports have shown that these patients exhibit a higher degree of intelligence.[symptoma.com]

Workup

Diagnosis of this disease is dependent on the anamnestic data. Amongst laboratory tests that may be performed, creatine kinase is the most useful, with elevated levels of the enzyme found. In some patients, the enzyme levels may be normal.

Genetic tests may be performed both prenatally and postnatally to check for deletions involving the SMN1 gene [5].

Electrocardiograms (ECGs) are usually normal in these patients [6].

A variety of other neuromuscular diseases may present in a similar manner. Differentiation is done by electrophysiological tests that demonstrate a reduction of transmitted nerve signals [7] [8]. Sensory signals are usually normal in adult spinal muscular atrophy. Tests involving compound motor action potential may also be performed for diagnosis.

Muscle biopsy is another test that may help in differentiating adult spinal muscular atrophy from other similar muscular diseases [9] [10]. These characteristically show atrophy of the muscle fibers with compensatory hypertrophy.

Differential diagnosis usually involves the other spinal muscle atrophies which include the X-linked spinal muscular atrophy, distal spinal muscular atrophy, autosomal dominant spinal muscular atrophy and juvenile asymmetric segmental spinal muscular atrophy. Postpolio syndrome and multifocal motor neuropathy are the other conditions that may present in a similar fashion.

There is a potential for patients with adult spinal muscular atrophy to be misdiagnosed due to the overlapping of clinical features. Over the years, patients labeled earlier as SMA have had their diagnoses revised to more treatable conditions including syringomyelia, amyotrophic lateral sclerosis, myopathy, axonal neuropathies and herniated lumbar discs. It is hence, recommended that patients be followed up for a long duration to establish the correct diagnosis.

Treatment

  • Treatment options focus on addressing the muscle weakness and can include physical therapy. If you or your child has been diagnosed with SMA4, talk with a doctor about all treatment options.[resourcerepository.org]
  • The sponsor is receiving a rare pediatric disease priority review voucher under a program intended to encourage development of new drugs and biologics for the prevention and treatment of rare pediatric diseases.[news-medical.net]
  • SMA Advocates for families have developed a Family Guide to help clients and families to understand and advocate for best practice treatment.[griswoldhomecare.com]
  • WHAT TREATMENT IS THERE FOR ADULT ONSET SMA? Research into SMA is progressing, but at present there is no known cure, and no treatment which will repair the damage to the anterior horn cells, or reverse the weakening of the muscles.[daneverard.co.uk]
  • It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care. Our staff consists of biologists and biochemists that are not trained to give medical advice .[uniprot.org]

Prognosis

  • Diagnosis - Adult-onset spinal muscular atrophy Prognosis - Adult-onset spinal muscular atrophy Treatment - Adult-onset spinal muscular atrophy Resources - Adult-onset spinal muscular atrophy Not supplied.[checkorphan.org]
  • prognosis of these patients 7,8.[radiopaedia.org]
  • The prognosis is poor for babies with SMA Type I: most die within the first two years.[bionews-tx.com]
  • These subgroup classifications are useful for prognosis and management.[en.wikibooks.org]
  • If a child reaches 18 months of age before symptoms begin, the prognosis is good. Symptoms will include reduced muscle strength and eventually, patients will lose the ability to walk.[babymed.com]

Etiology

  • Etiology Pathophysiology Clinical features The most common causes of death among patients with SMA are respiratory insufficiency (due to respiratory muscle weakness ) and aspiration pneumonia (due to bulbar weakness)![amboss.com]
  • Etiology As for the other forms of SMA, SMA4 has been associated with deletions in the SMN1 gene (5q12.2-q13.3) encoding the SMN (survival motor neuron) protein.[orpha.net]
  • Etiology [ edit ] Mode of inheritance: SMA is an autosomal recessive disorder Chromosome location: Chromosomal locus 5q11-q13 Molecular Genetics: SMN (survival motor neuron) has been identified as the primary SMA-determining gene The SMN gene is very[en.wikibooks.org]

Epidemiology

  • Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified.[amboss.com]
  • Summary Epidemiology Prevalence is estimated at around 1/300,000. Clinical description SMA4 usually manifests in the second or third decade of life.[orpha.net]
  • SMA with respiratory distress (SMARD1) Inheritance is autosomal recessive due to mutations in the IGHMBP2 gene on chromosome 11q13. [ 9 ] Epidemiology The estimated incidence is between 1 in 6,000 and 1 in 10,000 live births and the carrier frequency[patient.info]
  • Epidemiology of spinal muscular atrophies in a sample of the Italian population. Neuroepidemiology. 1992; 11 :34–8. [ PubMed : 1608493 ] Moutou C, Gardes N, Viville S.[ncbi.nlm.nih.gov]
Sex distribution
Age distribution

Pathophysiology

  • Etiology Pathophysiology Clinical features The most common causes of death among patients with SMA are respiratory insufficiency (due to respiratory muscle weakness ) and aspiration pneumonia (due to bulbar weakness)![amboss.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]
  • Pathophysiology In 1995, the spinal muscular atrophy disease-causing gene, termed the survival motor neuron ( SMN ), was discovered. [9] Each individual has 2 SMN genes, SMN1 and SMN2.[emedicine.medscape.com]

Prevention

  • Prevention - Adult-onset spinal muscular atrophy Genetic counseling is recommended for people with a family history of spinal muscular atrophy who want to have children.[checkorphan.org]
  • The sponsor is receiving a rare pediatric disease priority review voucher under a program intended to encourage development of new drugs and biologics for the prevention and treatment of rare pediatric diseases.[news-medical.net]
  • Maintain a good joint range and prevent asymmetry and scoliosis (curvature of the spine) Encourage good respiratory function. Assessments.[daneverard.co.uk]
  • 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]
  • Orthopedic surgical interventions such as tendon transfer or spinal surgery can prevent disability in patients with expected prolonged survival.[encyclopedia.com]

References

Article

  1. Wang CH1, Finkel RS, Bertini ES, et al. Consensus statement for standard of care in spinal muscular atrophy. J Child Neurol. 2007;22(8):1027-1049.
  2. Baioni MT, Ambiel CR. Spinal muscular atrophy: diagnosis, treatment and future prospects. J Pediatr (Rio J). 2010;86(4):261-270.
  3. Prior TW, Russman BS. Spinal Muscular Atrophy. 2000 Feb 24 [Updated 2013 Nov 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016.
  4. Joynt R, Griggs R. Clinical Neurology. Philadelphia: Lippincott; 1997. Vol 4: 11-5.
  5. Arnold WD, Kassar D, Kissel JT. Spinal Muscular Atrophy: Diagnosis and Management in a New Therapeutic Era. Muscle Nerve. 2015;51(2):157-167.
  6. Palladino A, Passamano L, Taglia A, et al. Cardiac involvement in patients with spinal muscular atrophies. Acta Myol. 2011 Dec. 30(3):175-8.
  7. Hausmanowa-Petrusewicz I, Karwanska A. Electromyographic findings in different forms of infantile and juvenile proximal spinal muscular atrophy. Muscle Nerve. 1986 Jan. 9(1):37-46.
  8. Krivickas LS. Electrodiagnosis in neuromuscular disease. Phys Med Rehabil Clin N Am. 1998 Feb. 9(1):83-114, vi.
  9. Buchthal F, Olsen PZ. Electromyography and muscle biopsy in infantile spinal muscular atrophy. Brain. 1970. 93(1):15-30.
  10. Dubowitz V. Muscle disorders in childhood. Major Probl Clin Pediatr. 1978. 16:iii-xiii, 1-282.

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Last updated: 2019-07-11 20:16