The disordered sleep in particular presents a significant problem to care providers. [checkorphan.org]

Dose response Information not present in EudraCT E.6.10 Pharmacogenetic Information not present in EudraCT E.6.11 Pharmacogenomic Information not present in EudraCT E.6.12 Pharmacoeconomic Information not present in EudraCT E.6.13 Others Information [clinicaltrialsregister.eu]

Retraction of hip flexors and hamstring muscles was present. Neither irradiation to lower limbs nor paresthesias were present. Blood phlogosis markers were not altered. [hindawi.com]

Most patients presenting beyond the neonatal period have increased urinary glycosaminoglycans and dysostosis multiplex. [news-medical.net]

• Splenomegaly

  […] stiffness Stiff joint Stiff joints [ more ] 0001387 Ovoid thoracolumbar vertebrae 0003309 Recurrent upper respiratory tract infections Recurrent colds 0002788 Seizures Seizure 0001250 Sleep disturbance Difficulty sleeping Trouble sleeping [ more ] 0002360 Splenomegaly [rarediseases.info.nih.gov]

  […] signs and symptoms include coarse facial features, vision loss [ 29 ], hearing loss [ 30 ], decreased pulmonary function and obstructive sleep apnoea [ 31 ], frequent and recurrent respiratory infections, cardiac disease [ 32, 33 ], hepatomegaly and splenomegaly [rheumatology.oxfordjournals.org]

• Developmental Delay

  It is characterized by behavioral changes, sleep disturbances and mental developmental delays. [icd10data.com]

  Analyzes chromosomes in newborns and infants for changes that can explain certain birth defects or developmental delays. Multiple testing options providing information on the genetic health of your baby during the first and second trimesters. [integratedgenetics.com]

  Patients usually present in infancy or early childhood with developmental delay, delayed speech, difficulty in feeding, hyperactivity or sleep disturbances. [genedx.com]

  Considerations for testing Testing for MPS III is appropriate for any individual with any combination of clinical features consistent with a MPS III including: progressive developmental delay, autistic features, sleep disturbances and mildly coarse facial [invitae.com]

  Initial symptoms may include frequent colds, runny nose, infections, growth delays, or mild developmental delays. Mild forms of these disorders may not become apparent until childhood or adolescence. [rarediseases.org]

• Inguinal Hernia

  Individuals with MPS III typically have mildly "coarse" facial features, a large head ( macrocephaly ), a slightly enlarged liver (mild hepatomegaly), and a soft out-pouching around the belly-button (umbilical hernia ) or lower abdomen (inguinal hernia [ghr.nlm.nih.gov]

  Complications of Mucopolysaccharidosis Type III may include: Inguinal hernia causing a bulge on the side of the pubic bone, abdominal weakness, numbness in the groin, groin pain especially while coughing or lifting heavy objects Umbilical hernia causing [dovemed.com]

  The most common clinical manifestations of MPS I include the following: Characteristic coarse facial features Frequent upper-respiratory infections and otitis media Hepatosplenomegaly Inguinal or umbilical hernia Characteristic skeletal and joint findings [centogene.com]

  hernias, chronic diarrhoea, CTS [ 34 ], communicating hydrocephalus and spinal cord compression. [rheumatology.oxfordjournals.org]

• Progressive Intellectual Disability 

  This condition causes progressive intellectual disability and the loss of previously acquired skills (developmental regression). In later stages of the disorder, people with MPS III may develop seizures and movement disorders. [ghr.nlm.nih.gov]

• Recurrent Respiratory Infection

  Other signs and symptoms include coarse facial features, vision loss [ 29 ], hearing loss [ 30 ], decreased pulmonary function and obstructive sleep apnoea [ 31 ], frequent and recurrent respiratory infections, cardiac disease [ 32, 33 ], hepatomegaly [rheumatology.oxfordjournals.org]

• Delayed Speech Development

  Children with Sanfilippo syndrome are born healthy and develop normally between the ages of two to six. At this time, developmental abnormalities begin to manifest in the form of delayed speech development or autistic behaviour patterns. [socialstyrelsen.se]

• Respiratory Disorders

  Respiratory and sleep disorders in mucopolysaccharidosis. J Inherit Metab Dis. 2013;36(2):201–10. [ Links ] 19. Hendriksz CJ, Lavery C, Coker M, Ucar SK, Jain M, Bell L, et al. [scielo.br]

• Diarrhea

  Although the clinical features of the disease are mainly neurological, patients may also develop diarrhea, carious teeth, and an enlarged liver and spleen. There is a broad range of clinical severity. [checkorphan.org]

  Other symptoms include: Behavioral problems Coarse facial features Diarrhea Full lips Heavy eyebrows that meet in the middle of the face above the nose Sleep difficulties Stiff joints that may not extend fully Walking problems Clinical Trials Clinical [mpssociety.org]

  Affected children are prone to frequent sinus infections, ear infections, and chronic diarrhea. They may have cavities or chipped teeth from weak enamel and headaches from accumulated fluid pressure on the brain. [jonahsjustbegun.org]

  Other symptoms may include: Behavioral problems, including hyperactivity Coarse facial features with heavy eyebrows that meet in the middle of the face above the nose Chronic diarrhea Enlarged liver and spleen Sleep difficulties Stiff joints that may [medlineplus.gov]

  Affected individuals often experience chronic diarrhea and recurrent upper respiratory and ear infections. People with MPS III may also have hearing loss and vision problems. [ghr.nlm.nih.gov]

• Chronic Diarrhea

  Affected children are prone to frequent sinus infections, ear infections, and chronic diarrhea. They may have cavities or chipped teeth from weak enamel and headaches from accumulated fluid pressure on the brain. [jonahsjustbegun.org]

  Other symptoms may include: Behavioral problems, including hyperactivity Coarse facial features with heavy eyebrows that meet in the middle of the face above the nose Chronic diarrhea Enlarged liver and spleen Sleep difficulties Stiff joints that may [medlineplus.gov]

  Affected individuals often experience chronic diarrhea and recurrent upper respiratory and ear infections. People with MPS III may also have hearing loss and vision problems. [ghr.nlm.nih.gov]

  Chronic diarrhea, enlarged liver and spleen are also common. It is difficult to clinically distinguish differences among the four types of Sanfilippo syndrome. [en.wikipedia.org]

  Most children with MPS type IIIA have severe neurological impairment by age 6 years Recurrent or chronic diarrhea and seizures occurs in some MPS III patients. [centogene.com]

• Hepatosplenomegaly

  Symptoms may include DWARFISM, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing. [hon.ch]

  Clinical features and disease severity are variable, but usually include short stature, hepatosplenomegaly, dysostosis multiplex, stiff joints, corneal clouding, cardiac abnormalities and facial dysmorphism. [news-medical.net]

  Developmental milestones were normal until 5 years old when she developed restless behavior, loss of motor skills, stiff gait, muscular spasticity, hepatosplenomegaly, and dysmorphic facies: bushy eyebrows, low forehead, and a short pouting upper lip. [bloodjournal.org]

  MPS II is found almost exclusively in young males and is clinically characterized by short stature, hepatosplenomegaly, joint contractures, and coarse facies. [centogene.com]

  Coarse facies, mild dysostosis multiplex, hepatosplenomegaly and joint contractures may also be present. There is considerable variation in onset and severity of the clinical phenotype even within a sibship. [genedx.com]

• Hepatomegaly

  Individuals with MPS III typically have mildly "coarse" facial features, a large head ( macrocephaly ), a slightly enlarged liver (mild hepatomegaly), and a soft out-pouching around the belly-button (umbilical hernia ) or lower abdomen (inguinal hernia [ghr.nlm.nih.gov]

  […] progressive and severe neurological deterioration causing hyperactivity, sleep disorders and loss of speech accompanied by behavioral abnormalities, neuropsychiatric problems, mental retardation, hearing loss, and visceral manifestations, such as mild hepatomegaly [phoenixnestbiotech.com]

  Somatic manifestations such as hepatomegaly, dysostosis multiplex, coarse facies and hypertrichosis are relatively mild compared to the other mucopolysaccharidoses. [invitae.com]

  Dense skull cap 0000250 Diarrhea Watery stool 0002014 Dysostosis multiplex 0000943 Growth abnormality Abnormal growth Growth issue [ more ] 0001507 Hearing impairment Deafness Hearing defect [ more ] 0000365 Heparan sulfate excretion in urine 0002159 Hepatomegaly [rarediseases.info.nih.gov]

  […] children Hyperactivity and aggression Lowered mental function and IQ levels, which progressively worsens Convulsions and movement disorders may develop over time Abnormally-shaped head with coarse facial features Disturbed sleep Mildly enlarged liver (hepatomegaly [dovemed.com]

• Hearing Impairment

  impairment Deafness Hearing defect [ more ] 0000365 Heparan sulfate excretion in urine 0002159 Hepatomegaly Enlarged liver 0002240 Hirsutism Excessive hairiness 0001007 Hyperactivity More active than typical 0000752 Intellectual disability Mental deficiency [rarediseases.info.nih.gov]

• Hirsutism

  The stiff joints, hirsuteness and coarse hair typical of other mucopolysaccharidoses are usually not present until late in the disease. [checkorphan.org]

  Watery stool 0002014 Dysostosis multiplex 0000943 Growth abnormality Abnormal growth Growth issue [ more ] 0001507 Hearing impairment Deafness Hearing defect [ more ] 0000365 Heparan sulfate excretion in urine 0002159 Hepatomegaly Enlarged liver 0002240 Hirsutism [rarediseases.info.nih.gov]

  Children with Sanfilippo syndrome are often described as having coarse hair, heavy eyebrows and increased hirsuteness (body hair) but many children with the syndrome do not develop these characteristics. [socialstyrelsen.se]

• Hypertrichosis

  […] causing hyperactivity, sleep disorders and loss of speech accompanied by behavioral abnormalities, neuropsychiatric problems, mental retardation, hearing loss, and visceral manifestations, such as mild hepatomegaly, joint stiffness, vertebral bodies and hypertrichosis [phoenixnestbiotech.com]

  Somatic manifestations such as hepatomegaly, dysostosis multiplex, coarse facies and hypertrichosis are relatively mild compared to the other mucopolysaccharidoses. [invitae.com]

• Papule

  Unique among the MPS disorders, MPS II patients may have a distinctive skin lesion (pebbling), which is described as ivory-white papules that are 2–10 mm in diameter, often coalescing to form ridges [ 35 ] ( Fig. 2 ). [rheumatology.oxfordjournals.org]

• Visual Impairment

  Impaired Wide range معلومات المراجع العنوان Fulton Special Education Digest: Selected Resources for Teachers, Parents and Carers المؤلفون Ann Worthington, Philippa Russell الإصدار معاد طباعته الناشر Routledge, 2014 رقم ISBN (الرقم الدولي المعياري للكتاب [books.google.com]

• Joint Stiffness

  Patients with MPS 7 may have abnormal coarsened facial features, enlargement of the liver and spleen, airway obstruction, lung disease, cardiovascular complications, joint stiffness, short stature, and skeletal disease. [ultragenyx.com]

  stiffness Stiff joint Stiff joints [ more ] 0001387 Ovoid thoracolumbar vertebrae 0003309 Recurrent upper respiratory tract infections Recurrent colds 0002788 Seizures Seizure 0001250 Sleep disturbance Difficulty sleeping Trouble sleeping [ more ] 0002360 [rarediseases.info.nih.gov]

  Symptoms include stiff joints, carpal tunnel syndrome, backward flow of blood into the heart (aortic regurgitation), and clouding of the cornea that may result in the loss of visual acuity. [rarediseases.org]

  Symptoms include stiff painful joints, carpal tunnel syndrome, glaucoma (with potential clouding of the cornea) and aortic valvular disease. [news-medical.net]

  Some people with MPS III have short stature, joint stiffness, or mild dysostosis multiplex, which refers to multiple skeletal abnormalities seen on x-ray. [ghr.nlm.nih.gov]

• Macrocephaly

  Individuals with MPS III typically have mildly "coarse" facial features, a large head ( macrocephaly ), a slightly enlarged liver (mild hepatomegaly), and a soft out-pouching around the belly-button (umbilical hernia ) or lower abdomen (inguinal hernia [ghr.nlm.nih.gov]

  Other forms of MPS VII are less severe and present during early childhood and are characterized by the following signs and symptoms: Macrocephaly and hydrocephalus Distinctive facial features and macroglossia Hepatosplenomegaly Cardiac valve abnormalities [centogene.com]

  Affected children may also have an abnormally large head (macrocephaly), a short neck and broad chest, delayed tooth eruption, progressive hearing loss, and enlargement of the liver and spleen (hepatosplenomegaly). [rarediseases.org]

• Aggressive Behavior

  Additional clinical symptoms include intellectual disability, progressive neurologic symptoms including aggressive behavior, poor coordination, seizures and hearing loss. [genedx.com]

  […] nervous system. [1] In people with MPS IIIA, the body cannot break down a large sugar molecule called heparin sulfate. [2] [3] Signs and symptoms usually begin in early childhood and include severe neurological symptoms such as progressive dementia, aggressive [rarediseases.info.nih.gov]

  In the toddler years, aggressive behaviors emerge, with marked hyperactivity and destructive tendencies. Somatic features, such as mild organomegaly, little to no corneal clouding, and orthopedic abnormalities, may be present. [emedicine.medscape.com]

  Affected individuals may experience seizures, unsteady gait, and aggressive behavior. Affected individuals may eventually lose the ability to walk. Accumulation of heparan sulfate may occur. [rarediseases.org]

• Seizure

  Medications are used to relieve symptoms (such as anticonvulsants for seizures ) and improve quality of life. Sedatives and melatonin have been used to improve the quality of sleep along with establishing a bedtime routine. [rarediseases.info.nih.gov]

  In the final phase of the illness, children become increasingly immobile and unresponsive, often require wheelchairs, and develop swallowing difficulties and seizures. [checkorphan.org]

  Seizures often occur after the age of 10. A few cases of attenuated forms have also been reported. [orpha.net]

  Box parents of children Park School physical disabilities Profound & Multiple publications pupils Residential Special Needs RNIB Road School:Day Special Needs Seealso seizures Severe Learning Difficulties skull Special Educational Needs Special School [books.google.com]

• Hyperactivity

  The disease progresses to increasing behavioural disturbance including temper tantrums, hyperactivity, destructiveness, aggressive behaviour,pica and sleep disturbance. [checkorphan.org]

  In people with MPS IIIA, the body cannot break down a large sugar molecule called heparin sulfate. [2] [3] Signs and symptoms usually begin in early childhood and include severe neurological symptoms such as progressive dementia, aggressive behavior, hyperactivity [rarediseases.info.nih.gov]

  Behavioural abnormalities including hyperactivity, disturbed sleep patterns, screaming and destructive tendencies can be difficult to control with medication. [socialstyrelsen.se]

  Patients usually present in infancy or early childhood with developmental delay, delayed speech, difficulty in feeding, hyperactivity or sleep disturbances. [genedx.com]

  Other symptoms may include: Behavioral problems, including hyperactivity Coarse facial features with heavy eyebrows that meet in the middle of the face above the nose Chronic diarrhea Enlarged liver and spleen Sleep difficulties Stiff joints that may [medlineplus.gov]

• Sleep Disturbance

  It is characterized by behavioral changes, sleep disturbances and mental developmental delays. [icd10data.com]

  The disease progresses to increasing behavioural disturbance including temper tantrums, hyperactivity, destructiveness, aggressive behaviour,pica and sleep disturbance. [checkorphan.org]

  Sleep disturbance in mucopolysaccharidosis type III (Sanfilippo syndrome): a survey of managing clinicians. Clin Genet. 2002;62:418-21. Barone R, Fiumara A, Villani GR, et al. Extraneurologic symptoms as presenting signs of Sanfilippo disease. [rarediseases.org]

  Phase 2 is characterized by a significant increase in behavioral issues, around 3-5 years of age, along with sleep disturbances and hyperactivity. Affected individuals may remain in this state for 5-10 years. [invitae.com]

  Patients usually present in infancy or early childhood with developmental delay, delayed speech, difficulty in feeding, hyperactivity or sleep disturbances. [genedx.com]

• Mental Deterioration

  Management and treatment Allogenic bone marrow grafts are contraindicated as they do not slow the mental deterioration, even in patients engrafted pre-symptomatically. [orpha.net]

  Patients exhibit serious clinical manifestations that cause various disturbances in daily life, including mental deterioration in some subtypes of mucopolysaccharidoses (1). [nature.com]

Precise identification of the specific form of Sanfilippo syndrome relies on enzymatic assays (see Workup). [emedicine.medscape.com]

• Enlargement of the Spleen

  Although the clinical features of the disease are mainly neurological, patients may also develop diarrhea, carious teeth, and an enlarged liver and spleen. There is a broad range of clinical severity. [checkorphan.org]

  Other symptoms may include: Behavioral problems, including hyperactivity Coarse facial features with heavy eyebrows that meet in the middle of the face above the nose Chronic diarrhea Enlarged liver and spleen Sleep difficulties Stiff joints that may [medlineplus.gov]

  Chronic diarrhea, enlarged liver and spleen are also common. It is difficult to clinically distinguish differences among the four types of Sanfilippo syndrome. [en.wikipedia.org]

  Additional findings include short stature, heart abnormalities, breathing irregularities, liver and spleen enlargement (hepatosplenomegaly), and/or neurological abnormalities. [rarediseases.org]

  Most males with Hunter syndrome develop joint stiffness, chronic diarrhea, enlarged liver and spleen, heart valve problems, hearing loss, and kyphosis. They also tend to be shorter than expected. [healthofchildren.com]

• Enlargement of the Liver

  Patients with MPS 7 may have abnormal coarsened facial features, enlargement of the liver and spleen, airway obstruction, lung disease, cardiovascular complications, joint stiffness, short stature, and skeletal disease. [ultragenyx.com]

  Additional findings include short stature, heart abnormalities, breathing irregularities, liver and spleen enlargement (hepatosplenomegaly), and/or neurological abnormalities. [rarediseases.org]

  Most males with Hunter syndrome develop joint stiffness, chronic diarrhea, enlarged liver and spleen, heart valve problems, hearing loss, and kyphosis. They also tend to be shorter than expected. [healthofchildren.com]

  Most males with Hunter syndrome develop joint stiffness, chronic diarrhea, enlarged liver and spleen, heart valve problems, hearing loss, kyphosis, and tend to be shorter than expected. [encyclopedia.com]

[…] care or treatment that concentrates on reducing the severity of disease symptoms. [mpssociety.org]

The neurological degradation accompanied by multiple complications requires a multidisciplinary management to allow adapted symptomatic treatment. [orpha.net]

to further characterize the long-term safety of Naglazyme® treatment. [clinicaltrials.ucsf.edu]

Treatment [ edit ] Treatment remains largely supportive. The behavioral disturbances of MPS-III respond poorly to medication. If an early diagnosis is made, bone marrow replacement may be beneficial. [en.wikipedia.org]

Treatment with enzyme replacement therapy has allowed the missing enzyme to be replaced with the aim to reduce the effects of the disease and prevent it progressing. Search date The evidence is current to: 05 February 2016. [cochrane.org]

Prognosis The prognosis is poor with death occurring in most cases of type IIIA at the end of the second decade. Longer survival times (30/40 years) have been reported for the B and D subtypes. [orpha.net]

Along with the current prevalence, the report also contains a disease overview of the risk factors, disease diagnosis and prognosis along with specific variations by geography and ethnicity. [globenewswire.com]

However, the prognosis also depends upon the severity of the signs and symptoms and the subtype of MPS Type III (whether A, B, C, or D). [dovemed.com]

Prognosis Sanfilippo syndrome is a progressive disorder with a very poor prognosis. Severe CNS degeneration occurs, with progression to a vegetative state. [emedicine.medscape.com]

Etiology Deficiencies in one of the four enzymes required for HS degradation are responsible for each of the MPS III subtypes: heparan sulfamidase for MPS IIIA, alpha-N-acetylglucosaminidase for MPS IIIB, alpha-glucosaminide N-acetyltransferase for MPS [orpha.net]

(Etiology) Mucopolysaccharidosis Type III is caused by inheriting faulty genes that prevents the body from producing certain enzymes. [dovemed.com]

[…] require manual ability, and has a direct impact on the functional performance of these individuals.1,11 When studying the occurrence of carpal tunnel syndrome in children diagnosed with MPS type II, Know et al.16 stated that this condition has a genetic etiology [scielo.br]

The aim of this study was to obtain data about the epidemiology of the different types of mucopolysaccharidoses in Japan and Switzerland and to compare with similar data from other countries. [ncbi.nlm.nih.gov]

Summary Epidemiology The disorder is underdiagnosed (due to the generally very mild dysmorphism); it is the most frequent MPS in the Netherlands and Australia with respective prevalences of 1/53 0000 and 1/67 000. [orpha.net]

To generate accurate patient population estimates, the database utilizes a combination of several world class sources that deliver the most up to date information form patient registries, clinical trials and epidemiology studies. [globenewswire.com]

Epidemiology of lysosomal storage diseases: an overview. In: Mehta A, Beck M, Sunder-Plassmann G, editors. Fabry Disease: Perspectives from 5 Years of FOS. Oxford: Oxford PharmaGenesis; 2006;Chapter 2. Clarke JTR. [rarediseases.org]

Epidemiology Frequency International In 1997, Nelson reported an incidence of 1 case per 280,000 live births (0.36 cases per 100,000 live births) for Sanfilippo syndrome in Northern Ireland. [7] In 1999, Poorthuis and others reported an incidence of 4.5 [emedicine.medscape.com]

Areas covered: This article provides an overview of pathophysiology, current therapeutic approaches as well as potential future treatments for MPS disorders. [tandfonline.com]

Clinical Information Discusses physiology, pathophysiology, and general clinical aspects, as they relate to a laboratory test Mucopolysaccharidosis type III (MPS-III), also known as Sanfilippo syndrome, is an autosomal recessive condition that consists [mayomedicallaboratories.com]

Some children with MPS III may have a blood-clotting problem during and after surgery. [6] Pathophysiology [ edit ] Glycosaminoglycans (GAGs) are polysaccharides that contain repeating disaccharides and sulfate groups. [en.wikipedia.org]

Pathophysiology The clinical features of Sanfilippo syndrome, including the significant CNS component (brain and spinal cord), result from the progressive lysosomal accumulation of the GAG heparan sulfate. [5] Four enzymes are involved in the different [emedicine.medscape.com]

(Etiology) Mucopolysaccharidosis Type III is caused by inheriting faulty genes that prevents the body from producing certain enzymes. [dovemed.com]

Risk Factors & Prevention 4. Diagnosis of the Disease 5. Variation by Geography/Ethnicity 6. Disease Prognosis & Clinical Course 7. Key comorbid conditions/Features associated with the disease 8. Methodology for quantification of patient numbers 9. [globenewswire.com]

Treatment with enzyme replacement therapy has allowed the missing enzyme to be replaced with the aim to reduce the effects of the disease and prevent it progressing. Search date The evidence is current to: 05 February 2016. [cochrane.org]

The goal is to prevent and relieve suffering and to improve quality of life for people facing serious, complex illness. This includes respite care, symptom management and bereavement support and may extend over a period of time. [mpssociety.org]

Prevention No specific preventive measures are available for genetic diseases of this type. [medical-dictionary.thefreedictionary.com]