MAND Awareness Day Date in the current year: February 23, 2025

The MDP5 gene encodes a protein involved in gene expression, the process by which the instructions in a gene are used to make a functional product, usually a protein. Mutations in this gene can partially affect the production of proteins involved in neurological function, resulting in MDB5-associated neurodevelopmental disorder (MAND). The disorder can occur when a large segment of DNA in the MDB5 gene is deleted, duplicated, or altered.

MAND is a rare disorder; as of 2019, only about 100 people affected by changes in the MDB5 gene have been described in the medical literature. Most cases are not inherited, but mutations in the MBD5 gene usually occur not during fetal development but during the formation of reproductive cells in one of the parents (egg or sperm).

MAND affects physical and neurological development from birth, causing developmental delay, distinctive facial features, mild skeletal abnormalities, sleep problems, speech impairment, and intellectual disability.

Typical facial features in individuals with MAND include a short nose with a wide or depressed nasal bridge, an upper lip that points outward and a full lower lip, downturned corners of the mouth, a broad forehead, thick and highly arched eyebrows, and outer ear abnormalities. Some, but not all, people with MAND have mild abnormalities of the hands and feet: small hands and feet, crooked little fingers, short fingers, or a sandal gap (a wide gap between the first and second toes).

Most children with MAND have weak muscle tone, which leads to feeding problems and constipation. They often do not walk until 2 or 3 years of age, and when they do, their gait is often wide-based and unbalanced. Their language skills, both the ability to understand and produce speech, are very limited. Most children with MAND develop epilepsy by 2 years of age.

Common sleep problems associated with MAND include frequent waking during the night, night terrors, and waking early in the morning, causing many people with MAND to feel extremely tired during the day due to poor sleep quality. Most people with MAND have symptoms similar to ASD, such as a short attention span and repetitive hand movements (hand licking, hand sucking, clapping). About 60% of people with MAND are aggressive and may harm themselves.

There is no cure for MAND; treatment is symptomatic with the main aim of achieving the best possible quality of life under the circumstances. It may include medications or other treatments for sleep disturbance and seizures, speech, behavioral, physical and/or occupational therapy.

MAND Awareness Day is observed on February 23 because it is often caused by a deletion or duplication of genetic material in a specific region of chromosome 2 known as 2q23.1. It was created to raise awareness of this rare genetic disorder, provide support to those affected and their families, and raise funds for research.