About lubs syndrome

What is lubs syndrome?

Androgen insensitivity refers to an inability of the body to respond properly to male sex hormones (androgens) produced during pregnancy. This occurs because of a change (mutation) in a gene involved in the production of the protein inside cells that receives the androgen hormone and instructs the cell in how to use it.

Partial androgen insensitivity syndrome (pais) is part of a spectrum of syndromes that also includes androgen insensitivity syndrome (AIS) and mild androgen insensitivity syndrome (mais). In each case, the development of the reproductive and genital organs of the fetus is affected, as a result of the gene mutation.

During the first 10 weeks of pregnancy, the external anatomy of male and female embryos appears to be identical. The presence or absence of the male sex hormone testosterone determines whether male or female genitalia develop. In partial androgen insensitivity syndrome, the development of the external genitals will be intermediate between male and female (ambiguous genitalia).

Each of these forms of AIS is also a hereditary form of male pseudohermaphroditism, in which the baby is born with testes and possesses both male and female characteristics. The disorder is inherited as an X-linked, recessive trait.

What are the symptoms for lubs syndrome?

Delayed ability to sit symptom was found in the lubs syndrome condition

A neurodevelopmental disorder known as X-linked Lubs-type syndromic intellectual developmental disorder (MRXSL) or lubs syndrome causes seizures, progressive spasticity, infantile hypotonia, mild dysmorphic features, delayed speech development, and recurrent infections. It is also marked by severely to profoundly impaired intellectual development. Only men are afflicted, though some modest neuropsychiatric symptoms in female carriers, including anxiety, may exist. Because the breakpoint sites and rearrangement sizes differ among those who are afflicted, submicroscopic Xq28 duplications, including MECP2 are regarded as nonrecurrent occurrences.

1. The majority of those who have this syndrome also have insufficient muscular tone in infancy, feeding issues, weak or nonexistent speech, or tight muscles (rigidity).
2. Mecp2 duplication syndrome patients experience delayed development of motor abilities like sitting and walking.
3. Most frequently, tonic-clonic Seizures affect about half of all people. This kind of seizure includes convulsions, rigidity of the muscles, and loss of consciousness, and it may not be treated with medication.
4. Some impacted people lose the abilities they have previously earned (developmental regression).
5. Roughly one-third of those with this condition need assistance when walking, and about half of people with this condition learn to walk. Respiratory tract infections are common in patients.

Symptoms
Delayed ability to roll over,Delayed ability to sit,Absent speech,Anxiety
Conditions
Chorea,Autistic behavior,Bruxism,Cerebellar Ataxia
Drugs
NA

What are the causes for lubs syndrome?

A neurodevelopmental disorder known as X-linked Lubs-type syndromic intellectual developmental disorder (MRXSL) or lubs syndrome causes seizures, progressive spasticity, infantile hypotonia, mild dysmorphic features, delayed speech development, and recurrent infections. It is also marked by severely to profoundly impaired intellectual development.

1. Only men are afflicted, though some modest neuropsychiatric symptoms in female carriers, including anxiety, may exist.
2. Because the breakpoint sites and rearrangement sizes differ among those who are afflicted, submicroscopic Xq28 duplications including MECP2 are regarded as nonrecurrent occurrences.
3. The linked Lubs-type syndromic intellectual developmental disorder (MRXSL) is a neurodevelopmental disorder that is characterized by seizures, progressive spasticity, infantile hypotonia, mild dysmorphic features, delayed speech development, and autistic features, and recurrent infections.
4. It also has severely to profoundly impaired intellectual development.

Symptoms
Delayed ability to roll over,Delayed ability to sit,Absent speech,Anxiety
Conditions
Chorea,Autistic behavior,Bruxism,Cerebellar ataxia
Drugs
NA

What are the treatments for lubs syndrome?

A neurodevelopmental disorder known as X-linked Lubs-type syndromic intellectual developmental disorder (MRXSL) causes seizures, progressive spasticity, infantile hypotonia, mild dysmorphic features, delayed speech development, and recurrent infections. It is also marked by severely to profoundly impaired intellectual development. Only men are afflicted, though some modest neuropsychiatric symptoms in female carriers, including anxiety, may exist. Because the breakpoint sites and rearrangement sizes differ among those who are afflicted, submicroscopic Xq28 duplications including MECP2 are regarded as nonrecurrent occurrences. A developmental condition that shows up during the developmental stage and is characterized by significantly below average overall intellectual functioning together with abnormalities in adaptive behavior. Patients with MRXSL display mental impairment that is accompanied by various characteristics. They include gastric reflux disease, swallowing issues, hypotonia, mild myopathy, and distinctive facial features such down slanting palpebral fissures, hypertelorism, and a short nose with a low nasal bridge. A disease that almost exclusively affects boys and is characterized by the delayed development of motor skills like sitting and walking has its material base in an extra copy of the MECP2 gene in every cell. Symptoms: Delayed ability to roll over. Delayed ability to sit. Absent speech. Anxiety. Condition: Chorea. Autistic behavior. Bruxism. Cerebellar ataxia. Drugs:

What are the risk factors for lubs syndrome?

A developmental condition that shows up during the developmental stage and is characterized by significantly below average overall intellectual functioning together with abnormalities in adaptive behavior. Patients with MRXSL display mental impairment that is accompanied by various characteristics. They include gastric reflux disease, swallowing issues, hypotonia, mild myopathy, and distinctive facial features such down slanting palpebral fissures, hypertelorism, and a short nose with a low nasal bridge. A disease that almost exclusively affects boys and is characterized by the delayed development of motor skills like sitting and walking has its material base in an extra copy of the MECP2 gene in every cell. Symptoms: Delayed ability to roll over. Delayed ability to sit. Absent speech. Anxiety. Condition: Chorea. Autistic behavior. Bruxism. Cerebellar ataxia. Drugs:

Video related to lubs syndrome