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.
Delayed ability to roll over,Delayed ability to sit,Absent speech,Anxiety
Chorea,Autistic behavior,Bruxism,Cerebellar Ataxia