In the early papules, a few sporadic dyskeratotic keratinocytes were present in the epidermis with or without a thickened horny layer. [ncbi.nlm.nih.gov]

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]

Acronym KANZD Synonyms NAGA deficiency type II Schindler disease type II Disclaimer Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. [uniprot.org]

This paper presents an overview of the biochemistry and the clinical spectrum of this group of diseases including sialidosis, galactosialidosis, α ‐and β ‐mannosidosis, fucosidosis, aspartylglucosaminuria, and α ‐N‐acetylgalactosaminidase deficiency [doi.org]

• Lymphedema

  A certified lymphedema therapist should be involved to treat/manage the lymphedema. [lymphedemapeople.com]

  Another patient had lymphedema, cardiomegaly, corneal opacity and slight facial coarsening including thick lips, a depressed nasal bridge and an enlarged tip of the nose. [rarediseases.info.nih.gov]

  […] infertility inflammation infusion-related reaction intestinal disaccharidases intracerebroventricular (icv) administration intranasal intrathecal delivery Kanzaki disease kidney transplant kinematics Krabbe disease late-onset lectin longitudinal study lymphedema [worldsymposia.org]

  hereditary I ( FLT4) Lymphedema, hereditary, IC ( GJC2) Lymphedema-distichiasis syndrome ( FOXC2) Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus ( FOXC2) Lymphoma, non-Hodgkin ( PRF1) Lymphoproliferative syndrome, EBV-associated [de.praenatal-medizin.de]

• Hepatomegaly

  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]

  Cross-eyed Squint Squint eyes [ more ] 0000486 Telangiectasia of the skin 0100585 Vertigo Dizzy spell 0002321 5%-29% of people have these symptoms Aplasia/Hypoplasia of the cerebellum Absent/small cerebellum Absent/underdeveloped cerebellum [ more ] 0007360 Hepatomegaly [rarediseases.info.nih.gov]

• Psychomotor Retardation

  retardation/mental retardation Saposin Deficiencies Saposins A, B, C or D AR infancy - adulthood neurological deterioration, variable B. [ntsad.org]

  Involvement in disease : 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). [sinobiological.com]

  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]

  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]

  They may then begin to exhibit a delay in the acquisition of skills that require the coordination of mental and muscular activity (psychomotor retardation). [rarediseases.org]

• Thick Lips

  […] vermilion border Full lips Increased volume of lip Plump lips Prominent lips Thick lips [ more ] 0012471 Tinnitus Ringing in ears Ringing in the ears [ more ] 0000360 Percent of people who have these symptoms is not available through HPO Abnormality [rarediseases.info.nih.gov]

  Individuals with Schindler disease type II may also develop distinctive facial features including mildly coarse features, thick lips, a depressed nasal bridge and an enlarged tip of the nose. [rarediseases.org]

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]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

In addition, all new patients in the U.S. are eligible to begin Fabrazyme treatment, at full dosing levels. [news-medical.net]

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

Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]

There is currently no cure and very few options for treatment. [dailycollegian.com]

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]

Affected individuals should talk to their physician and medical team about their specific case, associated symptoms and overall prognosis. SCHINDLER DISEASE TYPE I Schindler disease type I, the classic form of the disease, begins in infancy. [rarediseases.org]

Prognosis Few afflicted men live to be older than 50 years. A male cardiac variant exists in which patients have enough alpha-galactosidase to stave off the renal, neurologic, and skin changes typical of Fabry disease. [emedicine.medscape.com]

Serum α-N-acetylgalactosaminidase is associated with diagnosis/prognosis of patients with squamous cell carcinoma of the uterine cervix. Cancer Lett. 2000; 158 :61–4. [ PubMed ] [ Google Scholar ] 37. Desnick RJ, Schuchman EH. [ncbi.nlm.nih.gov]

They are organised into groups, and further divided into clinical, etiological or histopathological sub-types. [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]

Parkinson disease in twins: an etiologic study. JAMA 1999 ;281: 341 - 346 16. Piccini P, Burn DJ, Ceravolo R, Maraganore D, Brooks DJ. [nejm.org]

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]

In some epidemiologic studies the relation between smoking and colitis has been stronger in men than in women 4,19-21. [nejm.org]

[…] corporis diffusum (Fabry disease) versus matched controls, suggesting VEGF-A might be involved with vascular damage in angiokeratoma corporis diffusum (Fabry disease); however, additional research is needed to clarify the significance of this finding. [6] Epidemiology [emedicine.medscape.com]

Pathophysiology A defect in the activity of alpha-galactosidase, a lysosomal enzyme, results in the insidious storage of 2 neutral glycosphingolipids: trihexosylceramide (galactosylgalactosylglucosylceramide) and digalactosylceramide (galabiosylceramide [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]

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]

[…] 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]

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]