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X-linked Distal Spinal Muscular Atrophy Type 3



  • […] 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]
  • -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]
  • Diagnosis Diagnosis is based on the clinical presentation, family history, and genetic testing.[encyclopedia.com]
  • ., a 4-month-old female infant, presented with a 1 -week history of troubled feeding.[the-medical-dictionary.com]
  • He presented at 3 months with respiratory distress, apnea & cyanosis. He had microcephaly (head circumference- 36.5 cm, rd centile), retrognathia, and arthrogryposis.[annalsofian.org]
  • […] 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]
  • 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.[diseaseinfosearch.org]
  • 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]
  • It typically begins in adult life with asymmetrical muscle weakness (e.g. in one leg but not the other), but then spreads to become symmetrical muscle weakness.[www2.warwick.ac.uk]
Broad Nasal Bridge
  • The characteristic facial gestalt of PHS includes microcephaly, coarse facies, broad nasal bridge, wide mouth, fleshly lips, and cup-shaped ears.[chginc.org]
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]
  • Presenting symptoms are proximal flaccid weakness, fasciculations, cramps or tremor. Disease progression is usually slow and live expectancy is normal.[infona.pl]
  • Fine tremors of the face are present in over 90% of patients. Type 2 diabetes mellitus, hand tremor, and infertility can also occur.[encyclopedia.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.[diseaseinfosearch.org]
  • Respiratory problems often with accessory muscles present for breathing -Do not transition away from belly breathing due to impaired diaphragm strength -Swallowing and feeding difficulties -May require G-tube for feeding -Muscle fasciculations - inc tongue -Tremor[quizlet.com]
  • Muscle cramps, facial fasciculations, hand tremor. Associated with type 2 diabetes and infertility.[patient.info]
  • 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]
  • Skeletal and intercostal muscles denervation lead to weakness, hypotony, hyporeflexia, respiratory failure, symmetric muscle atrophy and paralysis in patients with SMA. Manifestations are prominent in proximal muscle of lower extremities.[ijp.mums.ac.ir]
  • LMN signs include weakness, muscle wasting, hyporeflexia, muscle cramps, and fasciculations. In the early stage of the disease, the clinical aspects of ALS can vary.[aetna.com]
  • Essential thrombocythemia Familial pancreatic carcinoma Giant cell glioblastoma Gliosarcoma Li-Fraumeni syndrome Papilloma of choroid plexus Precursor B-cell acute lymphoblastic leukemia Baraitser-Winter syndrome Developmental malformations - deafness - dystonia[csbg.cnb.csic.es]
  • […] distress type 1 Spinal muscular atrophy with respiratory distress type 2 Scapuloperoneal SMA X-linked SMA with arthrogryposis SMA-like with central nervous system manifestations Pontocerebellar hypoplasia (PCH) type 1A PCH2 PCH1C Leukoencephalopathy with dystonia[childneurologyfoundation.org]
  • […] who have no affected relative with early onset dystonia.[aetna.com]
  • Individuals with Partington syndrome have intellectual disability and progressive focal dystonia of the hands beginning in early childhood. Dystonia may also affect other parts of the body, causing impaired speech and/or an abnormal gait.[chginc.org]
  • Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness.[amboss.com]
  • Hypotonia and weakness are usually noted in the newborn period and can be associated with congenital joint contractures and areflexia.[ncbi.nlm.nih.gov]
  • Abstract Purpose: X-linked infantile spinal-muscular atrophy (XL-SMA) is a rare disorder, which presents with the clinical characteristics of hypotonia, areflexia, and multiple congenital contractures (arthrogryposis) associated with loss of anterior[nature.com]
Foot Drop
  • The clinical examination revealed evidence of distal muscle atrophy with foot drop. Minimal movement along with the gravity at the hips and weak antigravity movements at the shoulders was observed with no evidence of cranial nerve involvement.[annalsofian.org]
  • For example, the legs and shoes can be fitted with light braces and springs, respectively, to overcome foot drop. If foot drop is severe and the disease has become stationary, the ankle can be stabilized by arthrodeses.[aetna.com]
  • It is often associated with pes cavus foot deformity and later bilateral foot drop. 70-80% of all CMT1 disorders involve duplication of the PMP22 gene. Deletion of PMP22 results in hereditary neuropathy with liability to pressure palsies (HNPP).[chginc.org]


  • Thus, SYCP3 testing may be considered in the workup for women with recurrent pregnancy loss, and in males with non-obstructive azoospermia. Our laboratory offers DNA sequencing of all coding exons (2-9) of the SYCP3 gene.[chginc.org]


  • 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]
  • However, carriers tend not to present with muscle weakness or contractures. [1] Medical Management (current best evidence) There is no specific treatment for EDMD. Treatment is determined based on individual symptoms.[physio-pedia.com]
  • 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.[diseaseinfosearch.org]
  • There is no curative treatment for spinal muscular atrophy, and supportive treatment should be considered to improve patients’ quality of life and independency.[ijp.mums.ac.ir]
  • Treatment for spinal muscular atrophy Unfortunately, there is currently no specific treatment for SMA.[betterhealth.vic.gov.au]


  • […] based on the type of mutations and underlying factors HMSN varies; form with Dejerine Sottas has a poor prognosis; CMT1 has minimal impact on survival Treatment Therapy is aimed at the underlying etiology SMA III may require physical therapy ALS is generally[pathologyoutlines.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]
  • The older the age of onset, the better the prognosis![amboss.com]
  • Prognosis The prognosis for these patients is variable and depends on the underlying cause.[childneurologyfoundation.org]
  • The prognosis for babies affected by SMARD is highly variable, some die before their first birthday, having experienced rapid deterioration in their symptoms, whilst some live, with ventilatory support, to the age of two and beyond.[www2.warwick.ac.uk]


  • 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]
  • Definition / general Neurogenic type atrophy is a descriptive diagnosis that has multiple different etiologies; underlying etiology generally cannot be further elucidated by the muscle biopsy itself and needs clinicopathologic or radiologic correlation[pathologyoutlines.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]
  • etiology • Fine motor skills • Variable – based on upper extremity involvement • School modifications to accommodate physical disabilities • PT/OT – functional skills 15.[slideshare.net]
  • Arthrogryposis multiplex congenita is etiologically heterogeneous: underlying etiologies can include central nervous system causes, neurogenic effects, fetal constraint, and intrauterine vascular disruption (e.g., amyoplasia).[ncbi.nlm.nih.gov]


  • Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified.[amboss.com]
  • […] lymphohistiocytosis Synonym(s): - Juvenile spinal muscular atrophy - Kugelberg-Welander disease - SMA type 3 - SMA-III - SMA3 Classification (Orphanet): - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Diseases of the nervous system - Epidemiological[csbg.cnb.csic.es]
  • […] spinal muscular atrophy type 2 Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic disease Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities - Epidemiological[csbg.cnb.csic.es]
  • D. (2002) Taxonomy and epidemiology of spinal cord injury pain. In: Yezierski, R.P. and Burchiel, K. (eds.)[shiga-med.ac.jp]
  • Relevant External Links for ATP7A Genetic Association Database (GAD) ATP7A Human Genome Epidemiology (HuGE) Navigator ATP7A Atlas of Genetics and Cytogenetics in Oncology and Haematology: ATP7A No data available for Genatlas for ATP7A Gene Missense mutations[genecards.org]
Sex distribution
Age distribution


  • 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]
  • 2500 to 1 in 1214 in Scandinavian countries Sites Muscle biopsy can be obtained from the more distal muscles depending on the disease process and the muscle that is affected Generally, distal is more affected than proximal in many of these disorders Pathophysiology[pathologyoutlines.com]
  • Pathophysiological insights derived by natural history and motor function of spinal muscular atrophy. J Pediatr . 2013 Jan. 162(1):155-9. [Medline] . Lemoine TJ, Swoboda KJ, Bratton SL, Holubkov R, Mundorff M, Srivastava R.[emedicine.staging.medscape.com]
  • Pathophysiological insights into ALS with C9ORF72 expansions. Journal of Neurology, Neurosurgery and Psychiatry, 84(8), 931-935.[sydney.edu.au]


  • Intravenous fluids, expressed breast milk via nasogastric tube, neurological testing every 10 minutes, suctioning, and meticulous supportive care were essential to prevent complications.[the-medical-dictionary.com]
  • Orthopedic surgical interventions such as tendon transfer or spinal surgery can prevent disability in patients with expected prolonged survival.[encyclopedia.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]
  • Physical therapy, braces, and special appliances can benefit patients with static or slowly progressive disease by preventing scoliosis and contractures.[merckmanuals.com]
  • Excessive weight gain can also occur in sitters and walkers and can make mobility even more difficult; preventing excessive weight gain is easier than losing weight.[medicalhomeportal.org]

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