Hereditary motor sensory neuropathy (Charcot Marie Tooth) - a fairly common group of genetic disorders causing dysfunction in both motor and sensory nerves. Symptoms may include tight heel cords and difficulty walking.
Metachromatic leukodystrophy - an uncommon genetic disorder characterized by accumulation of sulfatides in cells of the nervous system, resulting in progressive destruction of the myelin sheath surrounding the central nervous system axons. This leads to progressive deterioration in cognitive and motor abilities.
GM1 gangliosidosis type II - a rare autosomal recessive lysosomal storage disease characterized by slowly progressive generalized neurodegeneration accompanied by mild skeletal changes, occurring from about 6 months to 3 years. Type I is more severe and is obvious in infancy.
Infantile neuroaxonal dystrophy - a rare genetic disorder affecting axons from central nervous system neurons, leading to progressive changes in vision, muscular control, and cognitive abilities.
Ataxia telangectasia - a rare genetic disorder (autosomal recessive) causing degeneration in the part of the brain that controls motor movements and speech and an increased risk for certain types of cancer due to unusual sensitivity to ionizing radiation. The individual with ataxia telangectasia may have developmental delay, poor balance, and articulation difficulties as a child.
Freidrich's ataxia - an uncommon genetic disorder (autosomal recessive) that leads to mitochondrial iron accumulation resulting in damage to nerves and heart muscle. It may present as difficulties in balance, speech problems, and heart problems, although the latter usually occur after the disease has been present for several years.
Abetalipoproteinemia - a rare genetic disorder affecting the absorption of dietary fats, cholesterol, and fat-soluble vitamins, due to the defective synthesis of beta-lipoproteins. These substances are necessary for normal growth, development, and maintenance of the body's cells, particularly nerve cells. Individuals with this disorder will often present with difficulty with coordinating movements; most will eventually become vision impaired as well.
Hereditary spastic paraparesis (HSP) - an uncommon genetic disorder characterized by progressive weakness and spasticity of the lower extremities. There are many forms and some have associated features such as blindness and cognitive deficits.
Glutaric acidemia I - a rare genetic disorder with a variable clinical presentation due to the inability of some individuals to break down certain amino acids which then accumulate in the nervous system leading to damage over time. Decreasing dietary exposure to these amino acids may slow the course of the deterioration.
Rett syndrome - a neurodevelopmental disorder seen only in females who have normal early development followed by loss of purposeful use of the hands, slowed head growth, gait abnormalities, seizures and intellectual disability. Mutations in the MECP2 gene are usually found in girls with this syndrome.
Lesch Nyhan syndrome - a rare genetic disorder (X-linked, observed only in boys) caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT) leading to a build-up of uric acid in body fluids and symptoms such as gout, gross motor developmental delays, intellectual disability and self-mutilation over the the first year of life.
Pelizaeus-Merzbacher disease - a rare genetic (X-linked recessive) degenerative central nervous system disorder, one of the leukodystrophies, in which white matter of the brain is affected. Motor and intellectual abilities deteriorate over time. The type presenting over the first few years of life is the one most likely to be confused with cerebral palsy.
Niemann Pick type C - one of the rare inherited leukodystrophies where the white matter of the brain, the liver, and the spleen are affected due to build up of lipids. Children may present in infants up through the teen years with symptoms of poor muscle coordination, spasticity, loss of intellectual abilities, and an enlarged liver and spleen.
The list of slowly progressive diseases is from [Fenichel: 2005]. Brief descriptions of these disorders are from [Fenichel: 2005] and individual disease pages in Genetics Home Reference (NLM), Gene Reviews search page (NIH), and Neurological disorders information search page (NIH).
Genetics in Primary Care Institute (AAP)
The goal of this site is to increase collaboration in the care of children with known or suspected genetic disorders. It includes health supervision guidelines and other useful resources; represents a collaboration among the Health Resources & Services Administration, the Maternal and Child Health Bureau, and the American Academy of Pediatrics.
Genetics Home Reference (NLM)
Sponsored by the National Library of Medicine, this site provides information about genetic conditions for patients and families; also provides general infomation about genes, chromosomes, genetic mutations, resources related to genetics, and a glossary of genetic terms.
|Compiled and edited by:||Lynne M Kerr, MD, PhD - 10/2008|
|Content Last Updated:||2/2014|