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Learning Disorders (LD)
The label "learning disorders" describes a syndrome, not a specific child with specific problems. The definition assists in classifying children, not teaching them. Children with learning disabilities may exhibit a combination of characteristics.
Leukodystrophy
The term leukodystrophy is used for a group of rare genetic diseases that involve the brain and/or spinal cord’s white matter. Currently, over 40 different leukodystrophies have been described.
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (commonly referred to as LBSL) is a progressive disorder that affects the brain and spinal cord.
Limb Girdle Muscular Dystrophy
Patients with LGMD usually begin to have symptoms in adolescence or early adulthood; however, some forms of LGMD are more severe, with symptoms beginning in childhood. Typically, these symptoms include weakness in the shoulders, hips, upper arms and legs. For example, patients may have progressive...
Metabolic Disorders
Most metabolic disorders are caused by the genetic deficiency of an enzyme that is needed to convert one chemical into another. For example, phenylketonuria, or "PKU," is caused by a deficiency of the enzyme phenylalanine hydroxylase, which converts the dietary amino acid, phenylalanine, into...
Metabolic Myopathies
These disorders are organized into three major groups: Glycogen metabolism disorders Lipid metabolism disorders Mitochondrial myopathies However, there are some metabolic myopathies that do not clearly fit into any of these groups. Unlike the muscular dystrophies , these disorders often cause...
Metachromatic Leukodystrophy
The parents of an individual with this disease usually each carry one copy of the mutated gene, but do not show signs and symptoms of the condition. The affected gene is called ARSA, which provides instructions for producing an enzyme called arylsulfutase A. Deficiency of this enzyme results in...
Mitochondrial Disorders
Mitochondrial disorders occur when the mitochondria fail and are not able to produce the energy a cell or tissue needs. This causes cell injury, or even cell death and organ damage.
Movement Disorders
While the clinical presentation ranges from an almost inability to move to severe constant and excessive movement, they are usually divided into groups primarily with excessive movement (hyperkinetic movement disorders) and those with diminished movements (bradykinetic movement disorders). These...
Multiple Sclerosis (MS)
Multiple sclerosis (MS) is an unpredictable disease of the central nervous system, that can range can range from relatively benign to somewhat disabling to devastating, as communication between the brain and other parts of the body is disrupted