SMARD1 patients usually present low birth weight, diaphragmatic palsy and distal muscular atrophy. [ncbi.nlm.nih.gov]

Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. [orpha.net]

• Weakness

  He suffered from diaphragmatic palsy and distal muscular weakness from 6 months of age. His lower limbs were at first in hypertonia, and then gradually progressed into hypotonia. [ncbi.nlm.nih.gov]

  In addition to muscle weakness and atrophy, a major complication of SMARD1 is breathing problems. [diseaseinfosearch.org]

  Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. [orpha.net]

  Muscle weakness severely impairs motor development, such as sitting, standing, and walking. [ghr.nlm.nih.gov]

• Crying

  Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. [orpha.net]

  Intrauterine growth retardation, weak cry, and foot deformities were the earliest symptoms of SMARD1. [ncbi.nlm.nih.gov]

  At birth, infants with SMARD1 are often noted to have a weak cry, inspiratory stridor, feeding difficulties, and congenital contractures, especially foot deformities. [genedx.com]

• Fatigue

  Atemnot Typ 1 General population 86.43 HIV 63.96 Hip replacement 12.63 Lung cancer 32.69 Role limitations due to emotional problems Spinale Muskelatrophie mit Atemnot Typ 1 General population 91.77 HIV 60.83 Hip replacement 69.53 Lung cancer 66.87 Energy fatigue [diseasemaps.org]

  Generally there is no pain, but symtoms that maybe experienced could include - aching muscles, a feeling of heaviness, numbness, tingling and Fatigue. When a family is considering further children there are options available. [annabellerosefoundation.co.uk]

  Fatigue is very common. [actsma.co.uk]

  Risk factors include being easily fatigued at meal time, needing excessive time to eat, and choking or coughing often while eating. Standard weight charts are not applicable due to the reduced muscle mass that occurs despite caloric supplementation. [medicalhomeportal.org]

• Underweight

  Nutritional assessments are helpful for evaluation of children who are underweight or overweight. [medicalhomeportal.org]

• Pallor

  […] eventration of diaphragm: SMARD1 Step 3: MRI brain If suspected congenital muscular dystrophy (CMD) White matter changes and cerebellar cysts are obvious phenotype in CMD (merosin negative) Step 4: Ophthalmology evaluation Myopia, astigmatism, optic nerve pallor [annalsofian.org]

• Respiratory Distress

  From Wikidata Jump to navigation Jump to search human disease Spinal muscular atrophy with respiratory distress type 1 SMARD1 Severe infantile axonal neuronopathy with respiratory failure SIANRF Distal hereditary motor neuronopathy type 6 DHMN6 DSMA1 [wikidata.org]

  Homepage Rare diseases Search Search for a rare disease Spinal muscular atrophy with respiratory distress type 1 Disease definition Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe [orpha.net]

  Autosomal recessive spinal muscular atrophy with respiratory distress type 1 (SMARD1) is the second anterior horn cell disease in infants in which the genetic defect has been defined. [ncbi.nlm.nih.gov]

  In infants, DMSAI is usually the cause of acute respiratory insufficiency in the first 6 months of life. [2] The respiratory distress should be confirmed as diaphragmatic palsy by fluoroscopy or by electromyography. [en.wikipedia.org]

• Respiratory Insufficiency

  The diagnosis of SMARD1 should be considered in children with early respiratory insufficiency or in cases of atypical SMA. Direct sequencing of the IGHMBP2 gene should be performed. [ncbi.nlm.nih.gov]

  Appleton RE, Hubner C, Grohmann K, Varon R (2004) Congenital peripheral neuropathy presenting as apnoea and respiratory insufficiency: spinal muscular atrophy with respiratory distress type 1 (SMARD1). [doi.org]

  Late-onset disease may present with respiratory insufficiency; clinically significant cardiac involvement as well as with characteristic proximal muscle weakness.[4]. Myasthenia gravis (MG) It is an autoimmune disease. [explainmedicine.com]

• Dyspnea

  Diaphragmatic paralysis, manifesting as dyspnea and paradoxical respiration, is the most prominent presenting sign and diaphragmatic motility should be investigated early by fluoroscopy or ultrasound. [ncbi.nlm.nih.gov]

  Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. [orpha.net]

  Kumar N, Folger WN, Bolton CF (2004) Dyspnea as the predominant manifestation of bilateral phrenic neuropathy. Mayo Clin Proc 79:1563–1565 PubMed CrossRef Google Scholar 22. [doi.org]

• Inspiratory Stridor

  Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. [orpha.net]

  At birth, infants with SMARD1 are often noted to have a weak cry, inspiratory stridor, feeding difficulties, and congenital contractures, especially foot deformities. [genedx.com]

• Stridor

  Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. [orpha.net]

  At birth, infants with SMARD1 are often noted to have a weak cry, inspiratory stridor, feeding difficulties, and congenital contractures, especially foot deformities. [genedx.com]

• Failure to Thrive

  The patient initially presented intrauterine growth retardation, poor sucking, failure to thrive, and respiratory failure at the age of two months, and an inborn error of metabolism was suspected at first. [ncbi.nlm.nih.gov]

  Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. [orpha.net]

• Vomiting

  He had been “breathing fast since birth” with no acute fevers, vomiting, or sick contacts. Review of systems is notable for diffuse muscle weakness and chronic coughing with feeds. [pediatricsectionwp.acep.org]

  Other nutritional issues, especially in individuals that are non-ambulatory (more severe types of SMA), include food not passing through the stomach quickly enough, gastric reflux, constipation, vomiting and bloating. [en.wikipedia.org]

• Cyanosis

  Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. [orpha.net]

  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]

  Prolonged cyanosis may be noted at delivery. In some instances, the disease can cause fulminant weakness in the first few days of life. [slideshare.net]

• Foot Deformity

  Spinal muscular atrophy with respiratory distress type 1 is an autosomal recessive disorder with early respiratory difficulties, distal muscle weakness, and contractures leading to foot deformities as the most striking clinical symptoms. [ncbi.nlm.nih.gov]

  Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features. [orpha.net]

• Reduced Fetal Movement

  fetal movements in utero and significant respiratory distress at birth. [avicennajmed.com]

  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]

• Peripheral Neuropathy

  H. (1976) Hereditary motor peripheral neuropathy predominantly affecting the arms. J. Neurol. Sci. 28, 389–394. [doi.org]

  Electromyography and nerve conduction studies revealing peripheral motor and sensory neuropathy then suggest the diagnosis which should be confirmed by genetic analysis. [link.springer.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. [jmg.bmj.com]

• Absent Deep Tendon Reflexes

  Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. [orpha.net]

  deep tendon reflexes Respiratory failure Variable cranial nerve involvement: opthalmoplegia, facial diplegia 21. [slideshare.net]

• 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]

  A differential diagnosis of SMARD1 that has recently been described is EMARDD (early onset myopathy, areflexia, respiratory distress and dysphagia), which is due to mutations in another gene called MEGF10 ( 11 ). [tidsskriftet.no]

  Signs and symptoms below are most common in the severe SMA type 0/I: Areflexia, particularly in extremities Overall muscle weakness, poor muscle tone, limpness or a tendency to flop Difficulty achieving developmental milestones, difficulty sitting/standing [en.wikipedia.org]

  Tifft, Novel SNP array analysis and exome sequencing detect a homozygous exon 7 deletion of MEGF10 causing early onset myopathy, areflexia, respiratory distress and dysphagia (EMARDD), Neuromuscular Disorders, 23, 6, (483), (2013). Xenia L. [doi.org]

• Hyporeflexia

  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]

  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]

• Screaming

  2018 Michelle Obama topples David Walliams to secure Christmas No 1 Podcast The best audiobooks to enjoy this Christmas - books podcast Podcast Published: 18 Dec 2018 The best audiobooks to enjoy this Christmas - books podcast Shortcuts ‘I’d love to scream [theguardian.com]

Gene therapy demonstrated effectiveness in SMA, being now at the stage of clinical trial in patients and therefore representing a possible treatment for SMARD1 as well. [ncbi.nlm.nih.gov]

AAV9- IGHMBP2 treatment resulted in a twofold increase in IGHMBP2 protein levels in spinal cord compared with AAV9-null treatment ( P < 0.01; Fig. 1, D and E). [doi.org]

The questions about the influence of the different persons over the decision process of treatment, the degree of satisfaction with the treatment elected, and the correspondence between treatment information and the child’s status, were answered by parents [oatext.com]

The goal of treatment is to reduce the complications of the disease, including a ventilator to help with breathing. If your child has been diagnosed with SMARD1, talk to your doctor about all current treatment options. [diseaseinfosearch.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]

SMARD1 is a poor-prognosis disease that should be considered when acute respiratory insufficiency, of suspected neuromuscular or unclear cause, develops during the first 6months of life. [ncbi.nlm.nih.gov]

[…] atrophy with respiratory distress 1 Home medical testing related to Spinal muscular atrophy with respiratory distress 1: Concentration -- Home Testing ADHD -- Home Testing Home Lung Function Tests Mental Health: Home Testing: Home Emotional Stress Tests Prognosis [checkorphan.org]

Prognosis The prognosis for these patients is variable and depends on the underlying cause. [childneurologyfoundation.org]

The older the age of onset, the better the prognosis! [amboss.com]

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]

Screening labs also help to distinguish infectious from non-infectious etiology. [pediatricsectionwp.acep.org]

[…] predominance (SMA-LED) SMA with distal weakness Distal SMA types 1,2,3,4,5 Amyotrophic lateral sclerosis (ALS) ALS types 2,4,5,6,16 Mobius syndrome Acquired causes Infections Poliovirus West Nile virus HIV HTLV-1 Enterovirus D68 Enterovirus 71 Vascular etiologies [childneurologyfoundation.org]

Epidemiology References: [1] [2] [3] Epidemiological data refers to the US, unless otherwise specified. [amboss.com]

D. (2002) Taxonomy and epidemiology of spinal cord injury pain. In: Yezierski, R.P. and Burchiel, K. (eds.) [shiga-med.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]

Author information 1 Dino Ferrari Centre, Neuroscience Section, Department of Pathophysiology and Transplantation (DEPT), University of Milan, Neurology Unit, IRCCS Foundation Ca' Granda Ospedale Maggiore Policlinico, Via Francesco Sforza 35, 20122 Milan [ncbi.nlm.nih.gov]

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]

[…] 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]

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]

Treatments help with symptoms and prevent complications. They may include machines to help with breathing, nutritional support, physical therapy, and medicines. NIH: National Institute of Neurological Disorders and Stroke [medlineplus.gov]

Prevention - Spinal muscular atrophy with respiratory distress 1 Not supplied. [checkorphan.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 principal focus of his research has been elucidation of the pathogenesis of the major forms of brain injury in the newborn, and prevention of this injury. [books.google.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]