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]

[…] s case may have resulted from the inhalation of C. botulinum spores present in the airborne dirt from the neighbor's ongoing construction. [the-medical-dictionary.com]

Diagnosis Diagnosis is based on the clinical presentation, family history, and genetic testing. [encyclopedia.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]

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]

• Asymptomatic

  Pulmonary AVMs (PAVMs) can be asymptomatic or manifest as dyspnea and hypoxemia secondary to shunting. [aetna.com]

  A female carrier is usually asymptomatic, but is still at risk for cardiac problems. [9] Autosomal Dominant EDMD: This means that one copy of the altered LMNA gene is enough to cause the disorder. [physio-pedia.com]

  Females tend to be asymptomatic even when homozygous. [morphopedics.wikidot.com]

  Cortical Function in Asymptomatic Carriers and Patients With C9orf72 Amyotrophic Lateral Sclerosis. JAMA Neurology, 72(11), 1268-1274. [sydney.edu.au]

  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]

• Underweight

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

• Developmental Disorder

  Genetic testing panels for the assessment and treatment of autism and other pervasive developmental disorders other than CGH. [aetna.com]

• Respiratory Insufficiency

  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]

  Congenital myasthenic syndromes, congenital muscular dystrophies, congenital myotonic dystrophy, and congenital myopathies can present with early onset lower motor neuron weakness and respiratory insufficiency in the severe cases. [annalsofian.org]

  Because she was at risk for respiratory failure, a thorough assessment was performed on her respiratory status. [the-medical-dictionary.com]

  Hall et al. 2 distinguished three different types of X-linked spinal muscular atrophy: 1) a severe (lethal) type, characterized by severe contractures, scoliosis, chest deformities, hypotonia, and death due to respiratory insufficiency within three months [nature.com]

• Constipation

  Although head lag and constipation may still be present, parents can be reassured that this is normal and that a full recovery will occur over time.9 * P.L.'s Outcome P.L.' [the-medical-dictionary.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]

  Manage constipation (resulting from weak abdominal musculature and poor motility) with diet (fiber and water content). Respiratory Provide rigorous pulmonary toilet, supplemental oxygen, and noninvasive ventilatory support. [ncbi.nlm.nih.gov]

  Symptoms, due to the impaired function of nerve or enteric smooth muscle, include nausea, vomiting, bloating, constipation, abdominal distention, abnormal digestive and intestinal mobility (peristalsis), abdominal pain, malnutrition. [chginc.org]

• Nausea

  Symptoms, due to the impaired function of nerve or enteric smooth muscle, include nausea, vomiting, bloating, constipation, abdominal distention, abnormal digestive and intestinal mobility (peristalsis), abdominal pain, malnutrition. [chginc.org]

• Vomiting

  Symptoms, due to the impaired function of nerve or enteric smooth muscle, include nausea, vomiting, bloating, constipation, abdominal distention, abnormal digestive and intestinal mobility (peristalsis), abdominal pain, malnutrition. [chginc.org]

• Muscular Atrophy

  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]

  Gozal D., Pulmonary manifestations of neuromuscular disease with special reference to Duchenne muscular dystrophy and spinal muscular atrophy. Pediatr Pulmonol. 2000;29:141-50. Strober JB, et al., Progressive spinal muscular atrophies. [rarediseases.org]

  Other forms of spinal muscular atrophy and related motor neuron diseases, such as spinal muscular atrophy with progressive myoclonic epilepsy, spinal muscular atrophy with lower extremity predominance, X-linked infantile spinal muscular atrophy, and spinal [ghr.nlm.nih.gov]

  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.staging.medscape.com]

• Myopathy

  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]

  Disease Type of connection Proximal spinal muscular atrophy type 1 Proximal spinal muscular atrophy type 2 Proximal spinal muscular atrophy type 4 Translocation renal cell carcinoma Inclusion body myopathy with Paget disease of bone and frontotemporal [csbg.cnb.csic.es]

  SMA MUTATIONS ALLELIC WITH OTHER NEUROMUSCULAR PHENOTYPES Locus (Gene) SMA ALS CMT HSP Other 20q13.32 (VAPB) SMA IV Finkel type fALS 8 12q24.3 (heat-shock protein 8) HMN IIA CMT 2L Desmin-related myopathy 7q11.23 (heat-shock protein B1) HMN IIB CMT 2F [neurology.mhmedical.com]

  May occur in conjunction with EDMD. [2] Myopathies- Diseases to consider may include Pompe disease, dermatomyositis, polymyositis, and nemaline myopathy. [2] Myasthenia Gravis- autoimmune disorder of the peripheral nerves characterized by weakness with [physio-pedia.com]

  Differential diagnosis Motor neurone disease Primary lateral sclerosis Muscular dystrophy Congenital myopathies Disorders of carbohydrate metabolism ( glycogen storage diseases ) Myasthenia gravis Poliomyelitis Investigations Blood tests Creatine kinase [patient.info]

• Tremor

  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]

  Muscle cramps, facial fasciculations, hand tremor. Associated with type 2 diabetes and infertility. [patient.info]

  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]

• Seizure

  […] cryptorchidia / unfixed testes Occasional - Abnormally placed nipples - Dermoid sinus / dimple / pit (excluding sacral) - Excess nuchal skin without pterygium colli - Long / large ear - Micropenis / small penis / agenesis - Mouth held open - Ptosis - Seizures [csbg.cnb.csic.es]

  […] s family history is negative for neuromuscular diseases, autoimmune diseases, diabetes, asthma, bleeding disorders, and seizure disorders. [the-medical-dictionary.com]

  Lennox-Gastaut syndrome, infantile spasms, vaccine-related encephalopathy, and seizures. [chginc.org]

  Children whose motor neuron disease results from miscoding of genes can have other neurological symptoms associated with their weakness, such as: brain malformations seizures spasticity ataxia spasticity contractures abnormal movements Weakness of the [childneurologyfoundation.org]

  […] myasthenic syndromes Early joint contractures/arthrogryposis: SMARD1, congenital muscular dystrophy, and congenital myotonic dystrophy (club foot) Autonomic disturbances: SMARD1 Step 2: Nerve conduction study/creatinine phosphokinase (CPK)/chest X-ray Seizures [annalsofian.org]

• Hyporeflexia

  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]

• Confusion

  Part of this confusion arises from phenotypic overlap. For example, although lower motor neuron (LMN) morbidity dominates most SMA phenotypes, upper motor neuron (UMN) features may occur in some forms of distal SMA. [neurology.mhmedical.com]

  The program helps both the child and family deal with feelings, symptoms, and concerns during a time that may be confusing and overwhelming. [medicalhomeportal.org]

  Other features may include confusion, poor judgment, language difficulties, withdrawal, and hallucinations. [chginc.org]

  Familial cold autoinflammatory syndrome shares symptoms, and should not be confused, with acquired cold urticaria, a more common condition mediated by different mechanisms that usually develop later in life and are rarely inherited. [aetna.com]

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]

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]

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]

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]

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]

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]

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]

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]

Centers for Disease Control and Prevention: Botulism: Frequently asked questions, 1999. http://www.cdc.gov/ncidod/diseases/foodborn/ botu.htm. 2. [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]

Children with type I SMA have early dysphagia and early placement of G-tube with Nissen fundoplication is often necessary to prevent aspiration and pneumonia. [medicalhomeportal.org]