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]

Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical presentation (4) assessment and diagnostic practices (5) evidence-based treatments [books.google.de]

• Developmental Delay

  What are some of the symptoms of developmental delay? You can identify developmental delay by the following symptoms. [humanbrainfacts.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]

  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]

  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). [ghr.nlm.nih.gov]

• Long Arm

  The gene has been mapped to the long arm (q) of chromosome 22 (22q11). [healthmedicinet.com]

• Angiokeratoma

  Immunoelectron microscopic analysis of lysosomal deposits in alpha-N-acetylgalactosaminidase deficiency with angiokeratoma corporis diffusum. J Dermatol Sci. 2002 May;29(1):42-8. [ghr.nlm.nih.gov]

  Lysosomal Glycoaminoacid Storage Disease-Angiokeratoma Corporis Diffusum Alpha-N-Acetylgalactosaminidase Deficiency Schindler Disease, Type III Neuronal Axonal Dystrophy, Schindler Type Alpha-Galnac Deficiency, Schindler Type Naga Deficiency Naga Deficiency [purl.bioontology.org]

  8 A case of N-acetyl galactosaminidase deficiency (Schindler disease) associated with autism. ( 12058843 ) Blanchon Y.C....Lauras B. 2002 9 Immunoelectron microscopic analysis of lysosomal deposits in alpha-N-acetylgalactosaminidase deficiency with angiokeratoma [malacards.org]

  Symptoms like intellectual impairment and Angiokeratomas, which is when your skin can become hardened and raised, in blue or purple color. Type III (intermediate form): This type has two extremes of symptoms. [wiki.ggc.usg.edu]

  This is characterized by angiokeratomas (superficial blood vessel dilation over which a wartlike growth occur), mild intellectual impairment, and peripheral nerve problems. [ismrd.org]

• Behavior Problem

  Symptoms vary and can include to be more severe with seizures and mental retardation, or less severe with delayed speech, a mild autistic like presentation, and/or behavioral problems. [en.wikipedia.org]

  In other cases, people with this form of the disorder exhibit behavioral problems beginning in early childhood, with some features of autism spectrum disorders. [ghr.nlm.nih.gov]

• Mild Cognitive Impairment

  Affected individuals may develop mild cognitive impairment and hearing loss caused by abnormalities of the inner ear (sensorineural hearing loss). [ghr.nlm.nih.gov]

• Convulsions

  Schindler disease (SCHIND) [MIM:609241]: Form of NAGA deficiency characterized by early-onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). [genecards.org]

  Disease description Form of NAGA deficiency characterized by early-onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). [uniprot.org]

  Schindler disease is a form of NAGA deficiency characterized by early onset neuroaxonal dystrophy and neurological signs (convulsion during fever, epilepsy, psychomotor retardation and hypotonia). [mybiosource.com]

• 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]

• Psychomotor Regression

  This disorder was originally reported in siblings with deficiency of α-N-acetylgalactosaminidase (α-NAGA) and early-onset, rapidly progressive psychomotor regression. 1 Whereas α-NAGA deficiency underlies the abnormal oligosacchariduria found in Schindler [jmg.bmj.com]

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]

• Alpha-Galactosidase A Deficiency

  alpha-N-Acetylgalactosaminidase Deficiency, Type II Alpha-N-acetylgalactosaminidase deficiency adult onset Alpha-Galactosidase B Deficiency Alpha-N-Acetylgalactosaminidase Deficiency, Type I Schindler Disease, Type II Alpha-Naga Deficiency Galb Deficiency [purl.bioontology.org]

  alpha-galactosidase B deficiency alpha-galNAc deficiency, Schindler type alpha N-acetylgalactosaminidase deficiency alpha-NAGA deficiency angiokeratome corporis diffusum-glycopeptiduria GALB deficiency Kanzaki disease lysosomal glycoaminoacid storage [ismrd.org]

  Also known as: alpha-galactosidase B deficiency alpha-galNAc deficiency, Schindler type alpha-N-acetylgalactosaminidase deficiency alpha-NAGA deficiency angiokeratoma corporis diffusum-glycopeptiduria GALB deficiency Kanzaki disease lysosomal glycoaminoacid [wiki.ggc.usg.edu]

  Schindler Type Disorder Subdivisions Alpha-Galactosidase B Deficiency Alpha-GalNAc Deficiency, Schindler Type Schindler Disease, Type I (Infantile Onset) Schindler Disease, Infantile Onset Infantile Onset Schindler Disease Classic Schindler Disease [healthmedicinet.com]

  The parents of an individual with an autosomal recessive condition each carry one copy of the mutated gene, but they typically do not show signs and symptoms of the condition. alpha-galactosidase B deficiency alpha-galNAc deficiency, Schindler type alpha-N-acetylgalactosaminidase [ghr.nlm.nih.gov]

Management and treatment Treatment of this disorder is symptomatic and supportive. [orpha.net]

Treatment or Management of the Condition There is NO cure for this disease. Treatment is only available for symptoms. [wiki.ggc.usg.edu]

[…] 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 - 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 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 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]

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]

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]

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]

Our Department houses the Mount Sinai Center for Jewish Genetic Diseases, the first such center established for the study, prevention, and cure of inherited diseases prevalent in the Jewish population. [geneticdiseasefoundation.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]

Is chronic lung disease in low birth weight infants preventable? A survey of eight centers. ‎ Página 84 - Tanner JM, Whitehouse RH, Marubini E, Resele LF. The adolescent growth spurt of boys and girls of the Harpenden growth study. ‎ [books.google.es]