Disease Information for Marinesco Sjogren syndrome

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Clinical Manifestations
Signs & Symptoms
Muscle spasticity
Muscle weakness
Cerebellar signs
Clumsiness/poor coordination
Equinus Posture/Ankles
Mental Deficiency Child
Spasticity/Spastic gait
Short stature
Short stature Child
Weakness
Associated Diseases & Rule outs
Associated Disease & Complications
Cataract
Marinesco-Sjogren syndrome
Mental retardation
Disease Mechanism & Classification
Class
CLASS/Cerebellar disorder (ex)
CLASS/Neurologic (category)
Pathophysiology
Pathophysiology/Hypogonadotrophic hypogonadism
Process
PROCESS/Autosomal recessive disorder (ex)
PROCESS/Hereditofamilial (category)
PROCESS/INCIDENCE/Rare disease (ex)
Synonyms
Synonym
cataract oligophrenia syndrome, hereditary oligophrenic cerebellolental degeneration, Marinesco Garland syndrome, Marinesco Sjogren Garland syndrome, Marinesco Sjogren Syndrome, Marinesco Sjögren syndrome, Marinesco Sjogren syndrome (disorder), Marinesco Sjögren syndrome (disorder), Marinesco Sjogren syndrome (MSS), MSS, Oligophrenic cerebellolenticular degeneration, Syndrome Marinesco Sjogren, Torsten Sjogren syndrome, Synonym/Marinesco-Garland-Moravcsik-Sjogren Synd, Synonym/MSS (Marinesco-Sjogren Syndrome), Synonym/MSS hypogonatrophic hypogonadism, Synonym/MSS Myopathy/Neuropathy
Definition

Marinesco Sjogren Syndrome; Marinesco-Garland Syndrome; Marinesco-Sjogren Syndrome-Hypergonadotrophic Hypogonadism; Marinesco-Sjogren Syndrome-Myopathy; Marinesco-Sjogren Syndrome-Neuropathy; Marinesco-Sjogren-Garland Syndrome; Moravcsik-Marinesco-Sjogren Syndrome; Myopathy-Marinesco-Sjogren Syndrome ;

Marinesco-Sjogren syndrome (MSS) is a rare disorder that is inherited as an autosomal recessive genetic condition; The major features of this disorder are a loss of muscle coordination as a result of an affect on the cerebellum (cerebellar ataxia), cloudiness of the eyes" lenses (cataracts), increased muscle tension (spasticity), progressive muscle weakness, short stature, and mental deficits; [NORD]

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External Links Related to Marinesco Sjogren syndrome
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Images
PubMed (National Library of Medicine)
NGC (National Guideline Clearinghouse)
Medscape (eMedicine)
Harrison's Online (accessmedicine)
NEJM (The New England Journal of Medicine)
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