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Autosomal Dominant Benign Spinal Muscular Atrophy

Congenital Non-Progressive Spinal Muscular Atrophy


Presentation

  • […] contractures Congenital nonprogressive spinal muscular atrophy Prevalence: - Inheritance: Autosomal dominant Age of onset: Antenatal , Neonatal ICD-10: G12.1 OMIM: 600175 UMLS: - 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]
  • To make a diagnosis of SMA, symptoms need to be present. When symptoms are present, diagnosis can be made by genetic testing. Gene alterations (mutations) in the SMN1 and VAPB genes cause SMA.[genome.gov]
  • Diagnosis Diagnosis is based on the clinical presentation, family history, and genetic testing.[encyclopedia.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]
Physician
  • In 2007 he received the Distinguished Physician Award from the American Association of Neuromuscular and Electrodiagnostic Medicine. Lahey Clinic's Medical Staff Association recognized Dr.[books.google.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]
Movement Disorder
  • disorders Basal ganglia disease : Parkinsonism ( PD, Postencephalitic, NMS ) · PKAN · Tauopathy ( PSP ) · Striatonigral degeneration · Hemiballismus · HD · OA Dyskinesia : Dystonia ( Spasmodic torticollis, Meige's, Blepharospasm ) · Chorea ( Choreoathetosis[thefullwiki.org]
Hyperlaxity
  • Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also[orpha.net]
  • […] type Congenital muscular dystrophy Congenital muscular dystrophy due to LMNA mutation Congenital muscular dystrophy due to dystroglycanopathy Congenital muscular dystrophy type 1A Congenital muscular dystrophy type 1B Congenital muscular dystrophy with hyperlaxity[se-atlas.de]
Flexion Contracture
  • contractures of the hip, knee and ankle joints.[orpha.net]
  • Orthopedic abnormalities such as congenital dislocation of the hip, chest wall asymmetries, and flexion contractures are present in 25% of affected newborns. SMA II (intermediate SMA) usually manifests itself between six and 12 months of age.[encyclopedia.com]
Lower Limb Muscle Weakness
  • limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints.[orpha.net]
Reduced Fetal Movement
  • There may be a history of reduced fetal movements in utero. Mortality/morbidity : median survival is 7 months - 95% die before 18 months. SMA type II Age of onset : 6-18 months. Features : developmental motor delay (delay in sitting, standing).[patient.info]
Spastic Paraplegia
  • The book also discusses spastic paraplegias and multifactorial inheritance and neurological diseases. The text is a valuable reference for readers interested in genetics and neurology.[books.google.com]
  • Conversely, hereditary spastic paraplegia is a predominantly UMN disorder but may have notable LMN features in some genotypes.[neurology.mhmedical.com]
  • […] that this form of spastic paraplegia and X linked recessive distal spinal muscular atrophy may be allelic cannot be ruled out.[jmg.bmj.com]
  • paraplegia type 17 Autosomal recessive distal hereditary motor neuropathy Autosomal recessive distal myopathy Autosomal recessive lower motor neuron disease with childhood onset Autosomal recessive myogenic arthrogryposis multiplex congenita Bacterial[se-atlas.de]
  • Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia. Am. J. Hum.[frontiersin.org]
Hyporeflexia
  • Affected infants have hypotonia (often notable at birth), hyporeflexia, tongue fasciculations, and pronounced difficulty sucking, swallowing, and eventually breathing.[merckmanuals.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]
  • Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness.[amboss.com]
Waddling Gait
  • Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also[orpha.net]
  • The initial reasons for clinical counseling are commonly the difficulties in walking (waddling gait and toe walking), and delayed motor milestones. Contractures are reported frequently, and few patients present congenital hip dysplasia.[frontiersin.org]
Areflexia
  • Patients typically present during infancy or early childhood with progressive weakness, hypotonia, muscle atrophy, hyporeflexia /areflexia, and varying degrees of bulbar weakness.[amboss.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

  • He is currently involved in multiple clinical trials of novel genetic interventions for the treatment of spinal muscular atrophy and Duchenne muscular dystrophy.[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]
  • She is an Associate Editor of the journal Experimental Neurology and advisor to several companies developing treatments for SMA as well as nonprofit foundations including the Packard Center for ALS research, ALS Association, Cure SMA, and the SMA Foundation[books.google.com]
  • Physiotherapy treatment will help improve range of movement and posture and improve your child's quality of life.[physio.co.uk]
  • Medical Treatment Guidelines , Jersey State Board of Physical Therapy , Premier Issue 2009[new-york-library.com]

Prognosis

  • The older the age of onset, the better the prognosis![amboss.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]
  • 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]
  • The prognosis for individuals with SMA varies depending on the type of SMA and the degree of respiratory function. The patient's condition tends to deteriorate over time, depending on the severity of the symptoms.[genome.gov]
  • Complications Spinal deformity Joint contractures Respiratory infection Respiratory failure Prognosis Although SMA involves a wide range of disease severity and a high mortality and morbidity rate, recent advances in multidisciplinary supportive care[patient.info]

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]
  • They are organised into groups, and further divided into clinical, etiological or histopathological sub-types.[orpha.net]
  • 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]

Epidemiology

  • Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified.[amboss.com]
  • 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 [ edit ] The TRPV4 (transient receptor potential vanilloid 4) gene, located on chromosome 12, encodes for a protein that serves as an ion channel, typically found in the plasma membrane and is permeable to Ca 2 .[en.wikipedia.org]
  • 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]
  • CUTTING EDGE/EMERGING AND UNIQUE CONCEPTS AND PRACTICE Cutting edge concepts and practice Advances in our understanding of the genetics of SMA have led to an improved understanding of the pathophysiology of the various forms of SMA.[now.aapmr.org]

Prevention

  • 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]
  • The current treatment for SMA involves prevention and management of the secondary effect of muscle weakness and loss. Today, much can be done for SMA patients in terms of medical and in particular respiratory, nutritional and rehabilitation care.[genome.gov]
  • Depending on your requirements, physiotherapy treatment will focus on: Improving joint range of movement, Preventing soft tissue shortening Improving posture in lying, sitting and standing Maximising respiratory function Maintaining muscle strength in[physio.co.uk]

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