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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 dynamic...
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
Mitochondria are specialized compartments found inside every cell of the body, except red blood cells. They are responsible for creating more than 90 percent of the energy needed by the body to sustain life and support growth. Mitochondrial disorders occur when the mitochondria fail and are not able...
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...
Muscular Dystrophy
Some of the common types of muscular dystrophies are described below. At Kennedy Krieger, we have expertise in and welcome those with both rare and common disorders of muscle. Duchenne Muscular Dystrophy: Duchenne muscular dystrophy is one of the most common inherited disorders worldwide. It is a...
Myotonic Muscular Dystrophy
Symptoms of myotonic dystrophy might include difficulty releasing one's grip (myotonia), weakness of muscles in the hands and feet, difficulty swallowing, abnormal movements of the gut muscles, and abnormal heart rhythms. Non-muscle symptoms may also include learning difficulties, daytime sleepiness...