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Metachromatic Leukodystrophy
Also Know As
Arylsulfatase A Deficiency
,
Metachromatic Leukoencephalopathy
Sign/Symptoms
Behaviour: Bizarre Or Strange
Behaviour: Disinhibition (Inability to Inhibit Inappropriate Behaviour)
Behaviour: Impulsive Behaviour
Eye: Vision Impairment
Mind: Dementia
Mind: Developmental Delay
Mind: Mental Lability
Muscle Tension
Muscle Tightening
Muscle Wasting
Seizures
Swallowing Difficulty (Dysphagia)
Urinary Control Loss (Incontinence)
Drugs
Our Records are Incomplete for Drugs
Treatments
Surgery
Bone Marrow Transplant
Lifestyle Changes
Physiotherapy
Weakly in Favour
Low Evidence
Occupational Therapy
Weakly in Favour
Low Evidence
Medical Therapy
Bone Marrow Transplant
Weakly in Favour
Low Evidence
Attributes
Commonality
is
rare
Incidence
is
approximately
1 in 40,000 people
Further Tests
Aspartate Aminotransferase (AST) Concentration
Aspartate Aminotransferase (AST) (Increased)
Creatine Kinase Concentration
Creatine Kinase3 (CK-MM) Isoenzyme (Increased)
Heamatocrit (Hct)
RBC Mass (Decreased)
Urine Amino Acid Concentration
Asparagine (Urine) (Increased)
Lysine (Urine) (Increased)
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