DUCHENNE MUSCULAR DYSTROPHY

Abstract:

Progressive muscle deterioration and weakening are the hallmarks of Duchenne muscle Dystrophy
(DMD), a rare hereditary condition that mostly affects men. This study/review article explores the
many facets of DMD, giving a general summary of the illness, its severity, psychological consequences
when it occurs, possible therapies, and the psychological impacts linked to genetic abnormalities.

Introduction and Description of DMD:

Mutations in the dystrophin gene result in either the absence or malfunction of the dystrophin
protein, which causes Duchenne Muscular Dystrophy, an X-linked recessive illness. With an estimated
prevalence of 1 in 3500 to 5000 male births worldwide, this illness mostly affects males. Female
carriers of DMD have one X chromosome with a normal dystrophin gene and the other X
chromosome with an abnormal dystrophin gene. A small percentage of DMD carriers experience the
disease's signs and symptoms. The majority do not. The symptoms can start in childhood or
adulthood and can vary in severity from moderate cardiac involvement or skeletal muscle weakness
to severe cardiac consequences or weakening. DMD usually first manifests in early childhood and is
marked by gradual muscle degeneration and weakening. The dystrophin protein is necessary to keep
muscle fibers intact; in its absence, fibrosis, inflammation, and damage to the fibers occur. This
results in a reduction in motor abilities, which impairs mobility and, in turn, lowers quality of life
overall.

Severity and its Psychosocial Effects:

Although DMD severity varies, by adolescence, it usually causes considerable functional impairment.
As the illness worsens, people might find it harder to perform daily tasks, which would make them
more dependent. The patients could experience social isolation, emotional distress, and difficulties
pursuing their academic and professional goals. Because DMD is a degenerative condition, people
with the illness and their families need to develop flexible coping strategies. While they dealt with
their child's illness, parents acknowledged experiencing feelings of loss, melancholy, and depression.
However, they recognized that their primary psychological problem was anxiety and worry about the
future. Parental stress levels peaked at life-altering events, such as the time of diagnosis, the point at
which the disease progressed and left their sons immobile, the need for a powered wheelchair or
non-invasive ventilation (NIV), and the death of peers, even though the parents were always stressed
and worried about their child and family. These significant occurrences demonstrated the course of
the illness, with parents citing their child's loss of mobility as one of the most emotionally taxing
obstacles to overcome. Parents frequently stopped participating in their personal interests and social
activities as they dealt with the emotional, physical, and, for some, financial effects of their child's
illness. Despite the numerous detrimental psychological effects of raising a kid with DMD, parents
consistently reported pleasant experiences. Long-term caregivers and those who thought their child
was gifted and sensitive were the ones who expressed the greatest positivity about their
circumstances; very few mothers had any negative emotions about helping their child. The parents'
experiences frequently altered their own personal ideals and strengthened their fortitude and
bravery in the face of hardship. Parents were aging as their children’s dependence was increasing,
but they felt increased confidence from having raised their children and satisfaction with their work
as caregivers. In contrast, some parents who had developed health problems themselves (sight
issues, back problems, and hypertension) had concerns about not being as able to care for their
children as previously.

The Onset of DMD and its Psychosocial Effects:

Between the ages of three and five, symptoms most frequently appear, including delayed
motor milestones and muscle weakness. Because of the early onset, affected people and their
families must deal with the difficulties of a complicated diagnosis, choices about treatment, financial
strains, and unknowns in the future. Anxiety and stress may also be experienced by the caregivers.
Due to the nature of the illness, some families saw an increase in financial hardship as well as a
child's growing physical dependence on parents as they grew older. Parents looked forward to their
age, retirement, and the changes in family structures and relationships as their other children grew
up and started families, with anxiety as their child matured into a young man. Along with the loss of
their primary caregiving role, parents experienced an increase in care demands and financial
pressures at the same time as these events. Parents acknowledged that they had some regrets
about the limitations DMD has placed on their lives, some of which were monetary. According to
certain studies, families who have a child with DMD face significant financial challenges because
their child's care costs are higher than the national median income. The disease also has a greater
impact on families in low-socioeconomic nations. Families found it challenging to break free from
poverty or even to consider ways to improve their income due to genuine concerns about the
economy.

Treatment and Cure:

Since DMD currently has no known cure, the major objectives of treatment are to control symptoms
and enhance quality of life. The use of corticosteroids like prednisolone and deflazacort, early beta-
blocker/ACE inhibitor treatment, physical therapy with stretching exercises, scoliosis surgery,
mobility assistance, respiratory support, etc. are examples of supportive therapies for patients. Gene
therapy and exon-skipping medications are examples of emergency therapeutic strategies that give
hope for future treatment alternatives.

The Likelihood of Having the Condition with a Mutation and Psychosocial Effects:

Because DMD is transmitted in an X-linked recessive manner, males are more likely to develop the
disorder than females, who are usually carriers. The emotional and practical difficulties of managing
an illness for which there is no known cure are among the psychological repercussions. For families
to make educated decisions and comprehend the ramifications of carrying the mutation, genetic
counseling is necessary.
Conclusion:

A complicated hereditary condition, Duchenne muscular dystrophy has significant psychosocial

ramifications for both affected individuals and their families. A multidisciplinary approach to
comprehensive care is required due to the unique mix of issues posed by the severity, onset, and
absence of a cure. Future studies and therapeutic developments provide hope for better results and
a deeper comprehension of the psychological dynamics related to DMD.

References:

1. https://my.clevelandclinic.org/health/diseases/23538-duchenne-muscular-dystrophy-dmd -
Duchenne Muscular Dystrophy

2. https://www.mdpi.com/2227-9067/8/3/212 - An Integrative Review Exploring Psycho-Social

Impacts and Therapeutic Interventions for Parent Caregivers of Young People Living with
Duchenne’s Muscular Dystrophy