Presentation
Additional neurological and neuromuscular symptoms such as diminished muscle tone, weakness, involuntary rapid eye movements, vision loss, and seizures may become present. [en.wikipedia.org]
This text brings together leading authorities presenting state-of-the-art clinical reviews covering the science, recognition, and treatment of the inherited metabolic epilepsies and related disorders. [books.google.de]
Entire Body System
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Developmental Delay
Affected individuals may exhibit signs and symptoms beginning in infancy, including developmental delay, seizures, a weakened and enlarged heart (cardiomyopathy), and an enlarged liver (hepatomegaly). [medigoo.com]
What are some of the symptoms of developmental delay? You can identify developmental delay by the following symptoms. [humanbrainfacts.org]
delay www.ntsad.org Refum Disease, classic Phytanic acid oxidase AR childhood - adulthood normal intelligence www.ntsad.org Yes* if affected family member is found. [ntsad.org]
Babies with this condition have severe developmental delay, hypotonia, and failure to thrive. They may have coarse facial features, seizures, bone malformations, hepatosplenomegaly and cardiomegaly. [egl-eurofins.com]
Neurologic
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Slow Speech
The other may just be slow speech, autistic characteristics, and impaired intellect. Treatment or Management of the Condition There is NO cure for this disease. Treatment is only available for symptoms. [wiki.ggc.usg.edu]
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Paresthesia
The reactions include one or more of the following: chills, fever, feeling hot or cold, dyspnea, nausea, flushing, headache, vomiting, paresthesia, fatigue, pruritus, pain in extremity, hypertension, chest pain, throat tightness, abdominal pain, dizziness [clinicaladvisor.com]
Workup
Hand muscle weakness, Foot muscle weakness, Diagnosis The diagnostic workup is based on the conditions symptoms, as well as the age. A urine test to show increased oligosaccharides, blood test or skin biopsy may help confirm the diagnosis. [lymphedemapeople.com]
Treatment
Management and treatment Treatment of this disorder is symptomatic and supportive. [orpha.net]
[…] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience [books.google.de]
Treatment or Management of the Condition There is NO cure for this disease. Treatment is only available for symptoms. [wiki.ggc.usg.edu]
Treatment - Schindler disease There is no known cure for Schindler disease. Treatment of this disorder is symptomatic and supportive. [checkorphan.org]
TREATMENT There is no current cure for this disease. Treatment is supportive. [secure.ssa.gov]
Prognosis
Prognosis Prognosis is variable depending on the type of NAGA deficiency, with type 1 having the worst and the other types having fairer outcomes. [orpha.net]
Prognosis - Schindler disease Prognosis is variable depending on the type of NAGA deficiency, with type 1 having the worst (usually dying within 4 years of birth) and the other types having fairer outcomes. [checkorphan.org]
[…] severity Loss of developmental milestones Mental retardation, severe Normal early development, up to 8 to 15 months of age Non-neurological Limb contractures by age 4-5 years Muscular atrophy, generalized Expected clinical course Expected clinical course Prognosis [repository.innermed.eu]
Treatment and prognosis Enzyme substitution (hydroxylase alpha-galactosidase) is efficacious in rectifying the metabolic deficit. It consists of an intravenous infusion which is typically given every two weeks 8. [radiopaedia.org]
Co -detection of urokinase plasminogen activator memember of the system in tumour tissue and serum correlates with a poor prognosis for soft- tissue sarcoma patients Br J Cancer (2010) 102 : 731-737 Thyer et al. [nagalase-test.de]
Etiology
Etiology All individuals with NAGA deficiency have mutations in the alpha-N-acetylgalactosaminidase gene ( NAGA ; 22q13.2) but not all develop neurological symptoms. A number of different NAGA mutations have been identified. [orpha.net]
Etiology Different causal homozygous mutations of the NAGA gene (22q13.2) have been described in the reported patients. These mutations lead to the dysfunction, instability and rapid degradation of the lysosomal protein, NAGA. [rarediseases.info.nih.gov]
Negative investigations for infection etiology, unbalanced chromosomal abnormalities and congenital major malformations (heart, kidneys and vascular system). [clinicaladvisor.com]
Epidemiology
Summary Epidemiology Exact prevalence of NAGA deficiency is unknown but fewer than 20 cases have been reported to date in patients of German, Dutch, Spanish, Japanese, French and Moroccan origin. [orpha.net]
Epidemiology Prevalence of this disorder is not known but less than 20 cases have been reported to date for NAGA deficiency. Clinical description This disorder is clinically heterogeneous. [rarediseases.info.nih.gov]
Epidemiology In 2005, Marsden et al compiled a report of physician narratives from an epidemiologic study regarding infantile-onset Pompe disease. [emedicine.medscape.com]
(Another epidemiology study in an European country confirms the prevalence observed in other countries.) Mechtler, TP, Stary, S, Metz, TF, De Jesús, VR, Greber-Platzer, S, Pollak, A. [clinicaladvisor.com]
Pathophysiology
Manifestations Although single gene defects typically result in substrate accumulation, the precise underlying pathophysiologic mechanisms that lead to clinical symptoms are not entirely clear. [emedicine.medscape.com]
Prevention
Kanzaki disease, NAGA deficiency, alpha-N-acetylgalactosaminidase deficiency Symptoms - Schindler disease Causes - Schindler disease Prevention - Schindler disease Prenatal diagnosis is theoretically possible by mutation analysis of the NAGA gene after [checkorphan.org]
[…] maintenance of satisfactory nutrition and hydration, management of infectious diseases (possibly by antibiotic shielding), control of seizures by anti-epileptic drugs, reduction of spasticity or pain with medication, adequate positioning, physiotherapy to prevent [orpha.net]
[…] fibroblasts Increased oligosaccharides and O-linked sialopeptides levels in urine assessed by thin layer chromatography Genomic Genomic Genetic Variations associated to Glycogen storage disorders due to Alpha-N-acetylgalactosaminidase deficiency type 3 Other Prevention [repository.innermed.eu]
This DNA vaccine has the potential to be a safe and effective therapy to prevent Alzheimer disease.He described Machado-Joseph disease (MJD), an autosomal dominant ataxia, with William Nyhan, M.D. Ph.D, in 1976, for the first time. [books.google.de]
In gene therapy, the defective gene present in a patient is replaced with a normal gene to enable the production of active enzyme and prevent pathology. [medigoo.com]