Edit concept Question Editor Create issue ticket

Distal Spinal Muscular Atrophy Type 3

Spinal Muscular Atrophy Distal Autosomal Recessive 3


Presentation

  • Neuromuscular syndromes are presented clinically either as a case study or as an overview from the literature, accompanied by text presenting molecular defects, and differential diagnosis.[books.google.com]
  • […] distal hereditary motor neuropathy type 3 Prevalence: Inheritance: X-linked recessive Age of onset: Adolescent , Adult , Infancy , Childhood ICD-10: G12.2 OMIM: 300489 UMLS: C1845359 MeSH: - GARD: - MedDRA: - The documents contained in this web site are presented[orpha.net]
  • Some individuals may present with congenital respiratory failure with congenital contractures whereas the others may present with respiratory distress after age six months without congenital contractures.[explainmedicine.com]
  • Classification Type Name Presentation Prognosis Type I Acute Werdnig-Hoffman disease • Present at 6 months • Absent DTR • Tongue fasciculations Poor, usually die by 2 yrs.[orthobullets.com]
  • Typical Presentation: Progressive muscle weakness, poor weight gain, sleep difficulties, pneumonia, scoliosis, joint contractures.[athenadiagnostics.com]
Weakness
  • […] of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.[orpha.net]
  • […] when moving, breathing, eating and swallowing Difficulties in raising the head in an upward position, or in sitting without support Muscles are thin and weak, limbs appearing limp and floppy Breathing problems caused by weakness in the baby’s chest Some[thehumanthebody.com]
  • The lower motor neuron involvement in disease can cause LMN manifestations such as fasciculation, atrophy, weakness, and hyporeflexia, Upper motor neurone involvement will cause UMN symptoms and signs such as spasticity, weakness and hyperreflexia where[explainmedicine.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]
  • Characteristics of spinal muscular atrophy 0-6 months (infant-onset) Highest motor milestone achieved UNABLE TO SIT (“nonsitters”) Type I (also known as Werdnig-Hoffmann disease) Characteristics Poor head control Weak cough Weak cry Progressive weakness[togetherinsma.com]
Physician
  • Genetic Neuromuscular Disorders: A Case-Based Approach is aimed at neuromuscular physicians and neurology residents.[books.google.com]
  • *Medscape Business of Medicine Academy Survey, September 2015 Learn from Experienced Professionals Courses were developed especially for physicians by business health experts and experienced physicians.[medscape.org]
  • If you're suffering from muscular atrophy but don't know the cause, describe all your symptoms to your treating physician.[disabilitysecrets.com]
  • The most common manifestation that parents and physicians note is developmental motor delay. Infants with SMA type II often have difficulties with sitting independently or failure to stand by 1 year of age.[ispub.com]
  • Theresa L LaBarte, DO Resident Physician, Department of Neurology, Loma Linda University Medical Center Theresa L LaBarte, DO is a member of the following medical societies: American Academy of Neurology Disclosure: Nothing to disclose.[emedicine.medscape.com]
Fatigue
  • These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies.[books.google.com]
  • We ask about general symptoms (anxious mood, depressed mood, fatigue, pain, and stress) regardless of condition. Last updated: May 13, 2019[patientslikeme.com]
  • It's also important that Social Security is aware of any non-exertional limitations you suffer from, including those involving: kneeling crouching crawling balancing stooping manipulating objects with your hands, and fatigue, lack of focus, or other mental[disabilitysecrets.com]
  • Before fitting children for the orthoses one needs to find out about fatigue, total sitting tolerance and dyspnea. If the individual is able to ambulate than a lightweight KAFO to stabilize the knees and ankle.[morphopedics.wikidot.com]
  • Some physical therapists specialize in aquatic therapy and use the physical properties of water to provide strength training, walking and balance exercises, and aerobic training, without the risk of fatigue or overworked muscles. Standing Programs.[moveforwardpt.com]
Chronic Fatigue Syndrome
  • These include criteria for the diagnosis of multiple sclerosis, dementia of Lewy-body type, frontal lobe dementias, chronic fatigue syndrome, and inflammatory neuropathies.[books.google.com]
Anemia
  • […] syndrome, Shwachman-Bodian syndrome, Pancreatic Insufficiency and congenital lipomatosis of pancreas,Metaphyseal chondrodysplasia (Shwachman-Diamondtype), SDS Sichelzellenanämie ( 2 Files ) Erkrankung: Sichelzellenanämie ICD 10: D57.1 Synonyme: Sickle Cell Anemia[orphananesthesia.eu]
Muscular Atrophy
  • Homepage Rare diseases Search Search for a rare disease X-linked distal spinal muscular atrophy type 3 Disease definition X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy[orpha.net]
  • Muscular Atrophy, Distal, Autosomal Recessive, 4 DSMA4 611067 Genetic Test Registry Spinal Muscular Atrophy, Distal, Autosomal Recessive, 5 DSMA5 614881 Genetic Test Registry Spinal Muscular Atrophy, Distal, X-Linked 3 Spinal Muscular Atrophy, Distal[ukgtn.nhs.uk]
  • Spinal muscular atrophy type 1 quality of life. Am J Phys Med Rehabil. 2003;82(2):137-42. Sporer SM, Smith BG. Hip dislocation in patients with spinal muscular atrophy. J Pediatr Orthop. 2003;23(1):10-4.[rarediseases.org]
  • […] form of muscular atrophy.[disabilitysecrets.com]
  • Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: a variant of infantile spinal muscular atrophy. Am J Med Genet. 1989 Jul. 33(3):328-35. [Medline].[emedicine.medscape.com]
Muscle Weakness
  • Non-classic variant of infantile-onset disease may present with slowly progressive muscle weakness, motor development delay,and they may died due to respiratory failure in early childhood.[explainmedicine.com]
  • Prognosis Progressive muscle weakness usually leads to death by age four for persons with SMA I. Muscle weakness progresses at varying rates in SMA II, and many persons survive into adulthood.[encyclopedia.com]
  • Without these important parts of the brain and spinal cord, an affected child loses control of muscle movement, has muscle weakness, and loses muscle tissue (atrophy). Muscle weakness in SMA2 is first noticed between the ages of 6 and 12 months.[diseaseinfosearch.org]
  • The types differ in age of onset and severity of muscle weakness; however, there is overlap between the types.[ghr.nlm.nih.gov]
  • Spinal Muscular Atrophies SMA type I – Acute infantile or Werdnig-Hoffman disease The condition is usually evident by the time the infant reaches 6 months of age Diffuse muscle weakness and hypotonia (severely reduced muscle tone), causing difficulties[thehumanthebody.com]
Myopathy
  • , dysferlin myopathy : Read PDF pp. 128-132 Case 45 - Distal myopathy with rimmed vacuoles, hereditary inclusion body myopathy : Read PDF pp. 133-135 Case 46 - Oculopharyngeal muscular dystrophy : Read PDF pp. 136-137 Case 47 - Myofibrillar myopathies[cco.cup.cam.ac.uk]
  • , 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]
  • Among early onset congenital myopathies, X-linked myotubular myopathy can have severe phenotype with bulbar dysfunction and respiratory weakness with affected other family members indicating typical inheritance pattern.[annalsofian.org]
  • . : «Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37». Hum. Mol. Genet., 1996, 5, 7 : 1043-1046.[jmunozy.org]
  • Endurance training and detraining in mitochondrial myopathies due to single large-scale mtDNA deletions. Brain, 2006; 129:3391–4001. CrossRef PubMed Google Scholar 73. Slonim AE, Bulone L, Goldberg T, et al.[link.springer.com]
Fracture
  • Characterised by severe muscle wasting as in SMA type I accompanied by congenital bone fractures PCH Spinal muscular atrophy with pontocerebellar hypoplasia (SMA-PCH) Pontocerebellar hypoplasia type 1A (PCH1A) 607596 VRK1 14q32 Autosomal dominant see[ipfs.io]
  • -Orthotics may be used to support standing and ambulation in toddlers -Usually lightweight KAFO's -Assisted walking programs may begin -Safety is crucial 2* increased fracture risk and falls due to weakness -Supported walking can decrease -Contractures[quizlet.com]
  • Skeletal muscle atrophy can predispose to long bone fractures so there is need to handle these patients care fully and pressure points padded very well.[ispub.com]
  • Infantile spinal muscular atrophy variant with congenital fractures in a female neonate: evidence for autosomal recessive inheritance. J Med Genet. 2002;39(1):74-7. Bach JR, Baird JS, Plosky D, Navado J, Weaver B.[rarediseases.org]
Hand Deformity
  • (A) Dorsal and frontal view; (B) distal atrophy of lower limbs; (C) muscle atrophy and hand deformities. Nerve conduction studies and electromyography were perfomed in all patients.[jmg.bmj.com]
Suggestibility
  • Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients.[books.google.com]
  • Clinical analysis of 445 patients and suggestions for a modification of existing classifications. Arch Neurol 1995 ; 52 : 518 –523.[cambridge.org]
  • Combined silver/cholinesterase/immunocytochemical staining of intramuscular nerve revealed abundant collateral axonal branching in mild disease but marked loss of terminal motor endplate innervation in the more severe state, suggesting decreased growth[neurology.org]
  • These results suggest that methylation at position -296 and -290 is functionally relevant and modulates the SMA disease severity in the presence of identical SMN2 copy numbers.[kups.ub.uni-koeln.de]
  • Cardiology Although the heart is not a matter of routine concern, a link between SMA and certain heart conditions has been suggested.[99funtastic.blogspot.com]
Onset in Adolescence
  • LATE ADOLESCENCE/ ADULTHOOD (adult-onset) LATE ADOLESCENCE/ADULTHOOD (adult-onset) 1,2,4 Highest motor milestone achieved ALL Life expectancy (untreated SMA) NORMAL Clinical characteristics Physical symptoms are similar to late-onset SMA, with the gradual[togetherinsma-hcp.com]
Polyneuropathy
  • : Read PDF pp. 96-99 Case 33 - Chronic idiopathic axonal polyneuropathy : Read PDF pp. 99-102 Case 34 - Classic myasthenia gravis : Read PDF pp. 103-106 Case 35 - Myasthenia gravis with autoantibodies to muscle-specific kinase : Read PDF pp. 107-108[cco.cup.cam.ac.uk]
  • See also Distal hereditary motor neuropathies Motor neuron disease Polyneuropathy in dogs and cats References "Spinal muscular atrophy". Genetics Home Reference. 2016-03-21. Retrieved 2016-03-26.[ipfs.io]
  • Specialists' reactions: [4] References Edit See also Edit Polyneuropathy in dogs and cats External links Edit sma at NINDS Fight SMA - An international nonprofit dedicated to finding a treatment or cure for spinal muscular atrophy [5] - Families of Spinal[psychology.wikia.com]
Peripheral Neuropathy
  • Entries on cerebellar diseases, peripheral neuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and syndromes - all these and many more have been added, expanded, updated or clarified[books.google.com]
  • Peripheral neuropathy . Philadelphia: WB Saunders, 1993 : 1051 –64. Harding AE , Thomas PK. Hereditary distal spinal muscular atrophy. A report on 34 cases and a review of the literature. J Neurol Sci 1980 ; 45 : 337 –48.[jmg.bmj.com]
  • Peripheral Neuropathy. 3rd ed. Philadelphia: WB Saunders; 1993. 1051-64. Ogino S, Leonard DG, Rennert H, Ewens WJ, Wilson RB. Genetic risk assessment in carrier testing for spinal muscular atrophy. Am J Med Genet. 2002 Jul 15. 110(4):301-7.[emedicine.medscape.com]
Absent Deep Tendon Reflex
  • tendon reflexes Respiratory failure Variable cranial nerve involvement: opthalmoplegia, facial diplegia 21.[slideshare.net]
Absent Ankle Reflex
  • ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males.[orpha.net]
Cerebellar Disease
  • Entries on cerebellar diseases, peripheral neuropathies, various dementias, diagnostic tests (both clinical and laboratory), forms of cerebral edema, dissociative signs and syndromes - all these and many more have been added, expanded, updated or clarified[books.google.com]

Workup

  • EDX remains important for diagnostic workup in atypical cases and non-5q-related SMA to demonstrate the neurogenic etiology of the illness.[now.aapmr.org]

Treatment

  • Key points for each genetic disease are identified to suggest treatment, when available, or the main clinical exams useful in follow-up of patients.[books.google.com]
  • The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.[orpha.net]
  • Nonoperative Nusinersen has been FDA approved for treatment of SMA.[orthobullets.com]
  • Treatment options, such as braces to help support the back or legs, are available to help manage the symptoms of SMA2. Talk to a doctor about all treatment options.[diseaseinfosearch.org]
  • Evaluation is important for guiding the treatment of a child with SMA.[moveforwardpt.com]

Prognosis

  • Prognosis Progressive muscle weakness usually leads to death by age four for persons with SMA I. Muscle weakness progresses at varying rates in SMA II, and many persons survive into adulthood.[encyclopedia.com]
  • The older the age of onset, the better the prognosis![amboss.com]
  • 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]
  • At some point, these babies will need noninvasive respiratory support. (5) Subgroup III Out of the three subgroups for Type I SMA, these subgroup has the best prognosis.[morphopedics.wikidot.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]
  • The diversity of etiological factors makes it prudent to have a high index of suspicion for evaluation of appropriate etiology as discussed in this case series. Early identification will avoid prolonged ventilation and allows appropriate counseling.[annalsofian.org]
  • Motor neurone disease It is a progressive neurodegenerative disease of unknown etiology.[explainmedicine.com]
  • Etiology SMA is categorized by its mode of inheritance and the pattern of weakness that phenotypically manifests (i.e. proximal vs. distal weakness).[now.aapmr.org]
  • Evidence for subtelomeric exchange of 3.3 kb tandemly repeatedy units between chromosome 4q35 and 10q26: implication for genetic counselling and etiology of FSHD1. Hum Mol Genet 1996; 5:1997–2003. CrossRef PubMed Google Scholar 30.[link.springer.com]

Epidemiology

  • Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified.[amboss.com]
  • No clinical epidemiological investigations of spinal muscular atrophy (SMA) have been carried out in Japan.[ci.nii.ac.jp]
  • 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]
  • This genomic organization provides a therapeutic pathway to promote SMN2, existing in all patients, to function like the missing SMN1 gene. [10] Epidemiology Frequency United States The spinal muscular atrophies are the second most common autosomal-recessive[emedicine.medscape.com]
  • Epidemiology including risk factors and primary prevention Spinal muscular atrophy disorders affects 1/6000 to 1/10,000 infants, with a carrier frequency in the general population of 1/40 5-7.[now.aapmr.org]
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]
  • […] affect mRNA processing. [1] The cellular mechanisms of the mutation, as well as the protein mechanisms disrupted by the mutation, are unknown. [3] IGHMBP2 mutations are usually random mutations which are normally not passed down through generations. [1] Pathophysiology[en.wikipedia.org]
  • Acid maltase deficiency: a case study and review of the pathophysiological changes and proposed therapeutic measures. J Neurol Neurosurg Psychiatry 1986; 49:1011–1018. CrossRef PubMed Google Scholar 58.[link.springer.com]

Prevention

  • Standing programs for children who can't walk are used to maintain muscle flexibility and length, prevent contractures, promote musculoskeletal development, and prevent bone-mineral density loss.[moveforwardpt.com]
  • Improve Your Chances by Hiring a Disability Attorney If you've been denied benefits for muscular atrophy that prevents you from working, an experienced disability attorney can help you navigate the confusing disability appeals process.[disabilitysecrets.com]
  • Orthopedic surgical interventions such as tendon transfer or spinal surgery can prevent disability in patients with expected prolonged survival.[encyclopedia.com]
  • 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]
  • Supportive therapy is aimed at preventing respiratory and orthopedic complications. Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified.[amboss.com]

Ask Question

5000 Characters left Format the text using: # Heading, **bold**, _italic_. HTML code is not allowed.
By publishing this question you agree to the TOS and Privacy policy.
• Use a precise title for your question.
• Ask a specific question and provide age, sex, symptoms, type and duration of treatment.
• Respect your own and other people's privacy, never post full names or contact information.
• Inappropriate questions will be deleted.
• In urgent cases contact a physician, visit a hospital or call an emergency service!