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Rare disease revealed: Why do patients with MDP syndrome have such tight skin?
MDP syndrome, whose full name is mandibular hypoplasia, deafness and aging-like syndrome, is an extremely rare metabolic disease. Only a few patients have been diagnosed in the world. According to information in December 2014, the number of known cases does not exceed 12. Research shows that the cause of this syndrome may be an abnormality in the POLD1 gene on chromosome 19, resulting in a defect in an important enzyme responsible for DNA replication.
Symptoms
The clinical manifestations of MDP syndrome include the following characteristics: underdevelopment of the jaw, deafness, tight skin, fat loss, low testosterone levels in men, spasm of the digitorum longus tendon leading to claw toes and joint stiffness.
Preliminary research shows that all known patients with MDP syndrome have the same genetic mutation, which is a single deletion in the POLD1 gene, resulting in the deletion of serine 605.
Genetics
The POLD1 gene is expressed in all cells, and most patients have spontaneous gene mutations, that is, their parents do not have the disease. In 2014, a second genetic variant, a novel heterogeneous mutation in exon 13, was reported in an Italian patient.
Diagnostic methods
Diagnosis of MDP syndrome usually relies on observation of clinical features, ultimately confirmed by identification of POLD1 gene variants, thanks to the molecular genetics team at Rodven and Exeter NHS Foundation Trust and the University of Exeter. This genetic variation was originally discovered.
Disease management
Appearance and growth
Patients with MDP syndrome appear normal at birth and early development, but as they age, the features become more apparent in pre-puberty. Slow growth of cartilage and ligaments results in features such as a nose, small chin, and small ears. In addition, fragile vocal cords keep the patient's voice high-pitched.
Fat loss (lipoatrophy)
Fat loss is the main feature of MDP syndrome, and the patient's face shows significant changes due to the lack of fat. Tight and fragile skin puts patients at increased risk of injury, and any trauma needs to be treated quickly to reduce the risk of infection.
Because fat cannot be stored normally, it is particularly important to maintain a healthy low-fat diet, which can help reduce the burden of subcutaneous fat.
Low testosterone and male reproductive problems
Some male patients face the problem of undescended testicles, and low testosterone is common. This needs to be managed with testosterone replacement therapy to promote growth and pubertal development.
Deaf
Deafness is another characteristic of MDP syndrome. Patients usually have difficulty wearing hearing aids due to the small shape of their ears.
Foot problems
Foot problems are often caused by direct pressure from a lack of subcutaneous fat, resulting in crusty feet. Look for insoles that fit well and keep your feet flexible.
Development and intelligence
Although some patients with MDP syndrome face physical challenges, most are intellectually high achievers and are active in fields such as law, medicine, and technology. Remarkably, they do not experience age-related mental decline.
Research background
MDP syndrome was first diagnosed by the Department of Molecular Genetics at the University of Exeter Medical School and Rodven and Exeter Hospital. They are conducting ongoing research to better understand the characteristics and management of this rare disease.
Social and cultural impact
British cyclist Tom Staniford is reported to be suffering from the disease. His efforts have also raised society's awareness and attention to MDP syndrome.
With such a rare and complex medical condition, do we really understand the challenges people with MDP syndrome face in their lives and their stories?
