About x-linked mental retardation with hypoton...

What is x-linked mental retardation with hypoton...?

MCT8-specific thyroid hormone cell transporter deficiency (THCT deficiency) is an inherited disorder that is characterized by severe mental retardation, an impaired ability to speak, diminished muscle tone (hypotonia), and/or movement abnormalities.

With the exception of poor muscle tone, most affected infants appear to develop normally during the first months of life. However, by about two months of age, affected infants may seem weak and have an inability to hold up the head. Due to hypotonia, severely reduced motor development, and other abnormalities, affected children very rarely develop any ability to walk and when they do, it is with shuffling gait. Associated features often include underdevelopment (hypoplasia) and wasting (atrophy) of muscle tissue; weakness and stiffness of the legs (spastic paraplegia) with exaggerated reflexes (hyperreflexia); relatively slow, involuntary, purposeless, commonly dyskinetic (abnormal movement) attacks. Writhing movements (athetoid movements); and/or other movement abnormalities are less common. Affected individuals may also have abnormalities of the skull and facial (craniofacial) region. THCT deficiency is inherited as an X-linked genetic disorder.

What are the symptoms for x-linked mental retardation with hypoton...?

Facial Hypotonia

Reduced muscle tone of a muscle that is innervated by the facial nerve (the seventh cranial nerve).

Abnormal Facial Shape

An abnormal morphology (form) of the face or its components.

Intellectual Disability

Subnormal intellectual functioning which originates during the developmental period. Intellectual disability, previously referred to as mental retardation, has been defined as an IQ score below 70.

What are the causes for x-linked mental retardation with hypoton...?

Alpha-thalassemia x-linked intellectual disability syndrome is a genetic disease, which means that it is caused by one or more genes not working correctly.

Disease causing variants in the following gene(s) are known to cause this disease: ATRX

What are the treatments for x-linked mental retardation with hypoton...?

X-linked mental retardation with hypotonia is a condition characterized by mild to moderate intellectual disability that affects only males.

1. Treatment strategy involves rehabilitation of the child and making him acquire adaptive skills for everyday life. Special schools provide individualized education to these children, so that they are able to acquire knowledge at their own pace.
2. Apart from academic knowledge, special education also provides these children with the requisite skills so that they are able to adjust to society. Specific treatment measures like behavior therapy are used to reduce the socially unacceptable behavior of these children.
3. For example, children with intellectual impairment may have a very low attention span and thus may disrupt their surroundings. Therapy helps to reduce such behavior.
4. Integrated education is a common approach being applied in cases of intellectual impairment in recent times. In this approach, cognitively deficient children are taught with non-disabled children in normal classrooms, but some skills are imparted to them separately.
5. This helps to give these children the best of both worlds. Children with intellectual impairment are different from their peers in that they need more individual attention than other children.
6. However, they need as much love and support as other children do. With early intervention, most children are able to live efficient and satisfactory lives.

Symptoms
Mild to moderate intellectual disability that affects only males
Condition
Delayed development of motor skills such as walking,Speech may be delayed
Drugs
Symptomatic treatment and therapy

What are the risk factors for x-linked mental retardation with hypoton...?

X-linked mental retardation with hypotonia is a condition characterized by mild to moderate intellectual disability that affects only males. Affected boys often have delayed development of motor skills such as walking, and their speech may be delayed

1. While X-linked intellectual disability of all types and causes is relatively common, with a prevalence of 1 in 600 to 1,000 males
2. This condition is inherited in an X-linked recessive pattern. The gene associated with this condition is located on the X chromosome, which is one of the two sex chromosomes.
3. In males (who have only one X chromosome), one altered copy of the gene in each cell is sufficient to cause the condition. In females (who have two X chromosomes), a mutation would have to occur in both copies of the gene to cause the disorder.
4. Because it is unlikely that females will have two altered copies of this gene, males are affected by X-linked recessive disorders much more frequently than females. A characteristic of X-linked inheritance is that fathers cannot pass X-linked traits to their sons.
5. X-linked intellectual disability, hypotonic type is caused by mutations in the PHF8 gene. This gene provides instructions for making a protein that is found in the cells, particularly in brain cells before and just after birth.
6. The PHF8 protein attaches (binds) to complexes called chromatin to regulate the activity (expression) of other genes. Chromatin is the network of DNA and protein that packages DNA into chromosomes.

Symptoms
Mild to moderate intellectual disability that affects only males
Condition
Delayed development of motor skills such as walking,Speech may be delayed
Drugs
Symptomatic treatment and therapy

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