Disease Information for Mucolipidosis IV (Bermans Syndrome)

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Clinical Manifestations
Signs & Symptoms
Hyperextensable Joints Infant
Tongue Protrudes Infant
Delay Sitting Unsupported Infant
Hypotonia
Mouth Hangs Open Infant
Muscles Soft/Doughy Infant
Rolling Over Delay Infant
Babkin infant sign/Abnormal
Delayed walking milestone/child
Development Motor Skills (Milestones) Delayed
Galant Infant reflex/Abnormal
Head Neck Floppy Infant Hypotonia Sign
Infant Head Support Delay
Mental Deficiency Child
Moro reflex Poor/Absent Infant
Palmar Grasp infant Reflex Abnormal
Primitive infant reflexes/Abnormal
Psychomotor regression/infant/child
Rooting infant sign/Abnormal
Swimming infant reflex/Abnormal
Tonic Neck Infant reflex/Abnormal
Shallow Breathing Infant
Psychomotor retardation
Disease Progression
Course/Chronic disorder
Course/Chronic only
Demographics & Risk Factors
Ethnic or Racial Factors
Ashkenasi Jewish population
Population Group
Child
Infant
Population/Pediatrics population
Sex & Age Groups
Population/Child
Population/Child-Infant Only
Population/Children/all
Population/Infant
Diagnostic Test Results
Other Tests & Procedures
Amniocentesis/Abnormality
Associated Diseases & Rule outs
Associated Disease & Complications
Blindness
Cataract
Mental retardation
Neonatal Hypotonia/Floppy Baby Syndrome
Retinal Degeneration/Dystrophy
Disease Mechanism & Classification
Class
CLASS/Pediatric disorders (ex)
Pathophysiology
Pathophysiology/Gene locus chromosome 19
Pathophysiology/Lysosome storage disorder (ex)
Pathophysiology/Mucolipidosis IV gene mutation
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Metabolic/storage disorder (category)
PROCESS/Storage disorder (ex)
Synonyms
Synonym
DEFIC DIS GANGLIOSIDE SIALIDASE, Deficiency Disease Ganglioside Sialidase, GANGLIOSIDE SIALIDASE DEFIC DIS, Ganglioside sialidase deficiency, Ganglioside sialidase deficiency (disorder), Ganglioside Sialidase Deficiency Disease, IV mucolipidosis, ML IV, Mucolipidoses Type IV, Mucolipidosis IV, Mucolipidosis Type IV, SIALOLIPIDOSIS, Type IV Mucolipidoses, Type IV Mucolipidosis, Synonym/Neuroaminidase Deficiency (ML4), Synonym/Sialolipidosis (ML4), Synonym/Type IV mucolipidosis
Definition

Mucolipidosis IV; Berman Syndrome; Ganglioside Neuraminidase Deficiency; Ganglioside Sialidase Deficiency; ML Disorder IV; ML IV; Neuraminidase Deficiency; Sialolipidosis; Mucolipidosis IV is a rare inherited metabolic disorder believed to be characterized by a deficiency of transport channel receptor protein, based upon the recent discovery of the Mucolipidosis IV gene; This deficiency may lead to the accumulation of certain fatty substances (mucolipids) and certain complex carbohydrates (mucopolysaccharides) within the cells of many tissues of the body; Mucolipidosis IV is characterized by mental retardation; severe impairment in the acquisition of skills requiring the coordination of muscular and mental activities (psychomotor retardation); diminished muscle tone (hypotonia); clouding (opacity) of the clear portion of the eyes through which light passes (cornea); and/or degeneration of the nerve-rich membrane lining the eyes (retinal degeneration); Mucolipidosis IV is thought to be inherited as an autosomal recessive genetic trait----------- [NORD 2005]--------------------------------------OVERVIEW

(ML4)is the most recently recognized Jewish genetic disease; The specific biochemical and genetic defects which cause ML4 are known to be associated with chromosome 19; This permits precise methods for diagnosis including identification of carriers of the gene which causes ML4 and prenatal diagnosis; Further research is required to isolate the disease gene; The disease is inherited as an autosomal recessive trait; Although both parents are normal, they carry the disease-causing gene; Such carrier couples have a 25% risk for an affected fetus with each pregnancy; The prenatal diagnosis of this disease has been successfully accomplished by electron microscopic demonstration of characterisic storage bodies in cultured amniotic cells obtained by amniocentesis; The prenatal diagnosis is difficult and must be performed in centers with expertise in the specialized techniques required for this diagnosis; Carrier testing is available by blood test; At present, no specific therapy is available; Optimal supportive care, including physical, occupational and speech therapy, can significantly improve the function and quality of life

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External Links Related to Mucolipidosis IV (Bermans Syndrome)
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Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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