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]

• Weight Gain

  Typical Presentation: Progressive muscle weakness, poor weight gain, sleep difficulties, pneumonia, scoliosis, joint contractures. [athenadiagnostics.com]

  Consistent with drastically increased survival, weight gain, and strength, the rescued animals demonstrated a significant improvement in muscle, NMJ, motor neurons, and axonal pathology. [ncbi.nlm.nih.gov]

  SMARD also can cause: Prenatally -decreased fetal movement while in utero -IUGR (low birth weight) -preterm birth (born before 37 weeks gestation) After birth -weak cry -feeding difficulties and poor weight gain -muscle weakness (usually greater in the [smardypants.blogspot.com]

  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]

  Every case is different but typical symptoms of SMARD include; Less fetal movement towards the end of pregnancy Paralysis of the diaphragm Slow weight gain Weak cry/cough Deformities of the hands/feet Sweating There is currently no known cure for SMARD [actsma.co.uk]

• 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]

• Asymptomatic

  […] wheelchair but life expectancy is unchanged.The more common clinical manifestations of the SMA spectrum that prompt diagnostic genetic testing: Progressive bilateral muscle weakness (Usually upper arms & legs more so than hands and feet) preceded by an asymptomatic [en.wikipedia.org]

  However, SMARD1 children are often asymptomatic at birth, and even if newborn screening is feasible, it is crucial to investigate whether treatment is also efficacious when administered during a symptomatic phase. [doi.org]

  Carrier testing is available for adults and siblings over age 18. [ Carré: 2016 ] Although testing at-risk younger siblings who are asymptomatic for SMA is controversial, many experts feel that early identification of children with SMA may improve clinical [medicalhomeportal.org]

• Surgical Procedure

  As controls, nmd mice received AAV9-null vector using the same dose and surgical procedure. The experimental groups included 17 AAV9- IGHMBP2-nmd mice and 24 AAV9-null- nmd mice. [doi.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]

• Tachypnea

  The evident tachypnea is associated with increased abdominal muscle use with retractions and grunting. Neurological exam has open, flat, anterior fontanelle with profound head lag and “frog-legging” of lower extremities. [pediatricsectionwp.acep.org]

  […] low birth weight) -preterm birth (born before 37 weeks gestation) After birth -weak cry -feeding difficulties and poor weight gain -muscle weakness (usually greater in the lower extremities and distal muscles) -elevated heart rate -excessive sweating -tachypnea [smardypants.blogspot.com]

• Constipation

  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]

  Constipation should be treated aggressively as it may lead to discomfort, more problems with gastric emptying, decreased appetite, and reflux. The Portal's Constipation has management information. [medicalhomeportal.org]

  Non-ambulant patients may develop pressure ulcers, severe constipation, urinary incontinence, and (rarely) reflux nephropathy in the advanced stages of the disease. [3] Diagnosis [ edit ] The diagnosis for DMSA1 is usually masked by a diagnosis for a [en.wikipedia.org]

  This can lead to symptoms such as excessive sweating, an irregular rate or rhythm of the heart ( cardiac arrhythmia), constipation, bladder incontinence and a reduced response to pain. [smasupportuk.org.uk]

• 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]

• Muscular Atrophy

  ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1; DSMA1 autosomal recessive distal spinal muscular atrophy type 1 SPINAL MUSCULAR ATROPHY, DISTAL, AUTOSOMAL RECESSIVE, 1 Hmn 6 Neuronopathy, Severe Infantile Axonal, With Respiratory Failure Hmn6 Spinal Muscular [wikidata.org]

  Hardart MK, Truog RD (2003) Spinal muscular atrophy-type I. [doi.org]

  Abstract Spinal muscular atrophy with respiratory distress type 1 (SMARD1), also known as distal spinal-muscular atrophy 1 (DSMA10), is an autosomal recessive type of spinal muscular atrophy that is related to mutations in the IGHMBP2 gene, which encodes [ncbi.nlm.nih.gov]

  ORPHA:98920 Synonym(s): Autosomal recessive distal spinal muscular atrophy type 1 Autosomal recessive spinal muscular atrophy with respiratory distress Diaphragmatic spinal muscular atrophy Distal hereditary motor neuropathy type 6 Distal-HMN type 6 SIANRF [orpha.net]

• Muscle Weakness

  Most patients presented at the age of 1 to 6 months with respiratory distress due to diaphragmatic paralysis and progressive muscle weakness with predominantly distal lower limb muscle involvement. Sensory and autonomic nerves are also affected. [ncbi.nlm.nih.gov]

  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). [diseaseinfosearch.org]

  The weakness soon spreads to all muscles; however, within 2 years, the muscle weakness typically stops getting worse. Some individuals may retain a low level of muscle function, while others lose all ability to move their muscles. [ghr.nlm.nih.gov]

  The main difference is the early onset respiratory difficulties babies with SMARD1 experience along with the muscle weakness. For more information about SMARD1 click here. Q&A: Here is where we answer some of our members questions. [mda.org.nz]

• 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]

• 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]

• Paresis

  Paradoxical movements of the diaphragm and diaphragmatic paresis, however, indicated damage to the phrenic nerve, and neurophysiological examination also showed peripheral nerve damage with demyelinisation. [tidsskriftet.no]

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]