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18 relations: Brain, C. Nash Herndon, Contracture, Gene, Hypotonia, Intellectual disability, Monocarboxylate transporter 8, Nervous system, Neuron, Santiago de Compostela, Spasticity, Synapse, Thyroid, Tiratricol, Triiodothyronine, Wheelchair, William Allan (geneticist), X-linked recessive inheritance.
Brain
The brain is an organ that serves as the center of the nervous system in all vertebrate and most invertebrate animals.
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C. Nash Herndon
Claude Nash Herndon Jr. (February 23, 1916 – March 29, 1998) was an American human geneticist and eugenicist who taught at the Bowman Gray School of Medicine (now the Wake Forest School of Medicine).
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Contracture
A muscle contracture is a permanent shortening of a muscle or joint.
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Gene
In biology, a gene is a sequence of DNA or RNA that codes for a molecule that has a function.
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Hypotonia
Hypotonia, commonly known as floppy baby syndrome, is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength.
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Intellectual disability
Intellectual disability (ID), also known as general learning disability, and mental retardation (MR), is a generalized neurodevelopmental disorder characterized by significantly impaired intellectual and adaptive functioning.
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Monocarboxylate transporter 8
Monocarboxylate transporter 8 (MCT8) is an active transporter protein that in humans is encoded by the SLC16A2 gene.
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Nervous system
The nervous system is the part of an animal that coordinates its actions by transmitting signals to and from different parts of its body.
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Neuron
A neuron, also known as a neurone (British spelling) and nerve cell, is an electrically excitable cell that receives, processes, and transmits information through electrical and chemical signals.
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Santiago de Compostela
Santiago de Compostela is the capital of the autonomous community of Galicia, in northwestern Spain.
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Spasticity
Spasticity is a feature of altered skeletal muscle performance with a combination of paralysis, increased tendon reflex activity, and hypertonia.
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Synapse
In the nervous system, a synapse is a structure that permits a neuron (or nerve cell) to pass an electrical or chemical signal to another neuron or to the target efferent cell.
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Thyroid
The thyroid gland, or simply the thyroid, is an endocrine gland in the neck, consisting of two lobes connected by an isthmus.
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Tiratricol
Tiratricol (also known as TRIAC or triiodothyroacetic acid) is a thyroid hormone analogue.
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Triiodothyronine
Triiodothyronine, also known as T3, is a thyroid hormone.
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Wheelchair
A wheelchair, often abbreviated to just "chair", is a chair with wheels, used when walking is difficult or impossible due to illness, injury, or disability.
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William Allan (geneticist)
William Allan (1881–1943) was an American physician and geneticist who made pioneering studies in human genetics and hereditary diseases.
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X-linked recessive inheritance
X-linked recessive inheritance is a mode of inheritance in which a mutation in a gene on the X chromosome causes the phenotype to be expressed in males (who are necessarily hemizygous for the gene mutation because they have one X and one Y chromosome) and in females who are homozygous for the gene mutation, see zygosity.
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Allan Herndon syndrome, Allan-Herndon syndrome, Allan-Herndon-Dudley syndrome, MCT8 deficiency, Mental retardation, X-linked, with hypotonia, Monocarboxylate transporter 8 (MCT8) deficiency, Monocarboxylate transporter 8 deficiency.
References
[1] https://en.wikipedia.org/wiki/Allan–Herndon–Dudley_syndrome
