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Duchenne Muscular Dystrophy (DMD) also known as pseudo-hypertrophic (meaning false overgrowth). DMD is seen only in boys because it is an X-linked genetic disorder that boys can develop. With DMD the muscle lacks a protein called dystrophin. When the dystrophin gets replaced with fat and scar tissue it causes a buildup that will make muscles look incredibly large (especially in the calfs). Children who are diagnosed with DMD can survive into their 20's but rarely into their 30's. The cause of death is usually cardiopulmonary related.

ICD-10 DX Code: G71. 01

References:
https://www.parentprojectmd.org/new-duchenne-becker-icd-code-in-effect-today-g71-01/
Solomon, J. W., & O'brien, J. clifford. (n.d.) (5th ed.).

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Healthy muscle versus DMD muscle histology  

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Duchenne's Muscular Dystrophy is a rare muscle disorder that affects 1 in 3,500 male births worldwide. Signs and symptoms are usually found when the child is between the ages of three and six.

Reference: https://www.nature.com/articles/s41572-021-00248-3
https://rarediseases.org/rare-diseases/duchenne-muscular-dystrophy/#:~:text=Duchenne%20muscular%20dystrophy%20(DMD)%20is,in%203%2C500%20male%20births%20worldwide.

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In 1986, researchers discovered a gene on the X chromosome that when flawed, is the cause of DMD. The DMD gene is identified as dystrophin.

DMD is inherited from an X-linked pattern. Every boy inherits an X chromosome from his mother and a Y chromosome from his father making him male.

When the son is born from a mother with a dystrophin mutation on one of her two X chromosomes she will have a 50% chance of inheriting the flawed gene and having DMD.

When the same mother has a daughter, each of her daughters will have a 50% chance of inheriting the mutation and being a carrier. Carriers likely will not have any disease symptoms but they can have a child with the mutation or the disease.

Duchennes Muscular Dystrophy occurs because the mutated DMD gene fails to produce any functional dystrophin

Resources: https://www.mda.org/disease/duchenne-muscular-dystrophy/causes-inheritance

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Typical Course Symptoms and Related Conditions 

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Typical Course Symptoms and Related Conditions 

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Progressive muscle weakness,
Calf muscle hypertrophy,
Fatigue,
Toe walking,
Difficulty climbing stairs,
Frequent falls,
Developmental delay,
Breathing problems,
Learning differences,
Delayed speech and language development,
Deterioration of heart muscle,
Scoliosis, and
Short stature (height)

Reference: https://my.clevelandclinic.org/health/diseases/23538-duchenne-muscular-dystrophy-dmd
https://nyulangone.org/conditions/muscular-dystrophy/types#:~:text=Complications%20of%20Duchenne%20muscular%20dystrophy,dystrophy%20can%20live%20into%20adulthood.

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Currently, Duchenne Muscular Dystrophy still has no cure. DMD primarily affects cardiac and skeletal muscles however, it comes with many consequences that require a multidisciplinary, patient-centered approach that takes place from beginning to end of life.

Prevention and Management of symptoms:

Pediatrician,
Physician,

Nurses,

Physiotherapists,

Speech therapist,
Pulmonologist,
Cardiologist,
Physical therapist, and

Dietician

Improve Quality of Life:

Occupational therapists,

Psychologists, and

Social workers

Resource: https://www.nature.com/articles/s41572-021-00248-3

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Goals of OT:

-Maximize functional independence in everyday activities,

-Addressing school tasks

- Independence in work or school

-Independence in leisure skills and hobbies

-Facilitate social integration with peers

Resources:
https://www.parentprojectmd.org/care/care-guidelines/by-area/physical-therapy-and-stretching/occupational-therapy/

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Occupational Therapy Evaluation/ Assessment  

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Occupational Therapy Evaluation/ Assessment  

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Occupational profile

The Assessment of Motor and Process Skills (AMPS) this test is designed to measure the performance quality of tasks related to ADLs in a natural environment

Since DMD is not the same in every person and can progress at different stages it is important to test for strength, range of motion, and timed tests that will show how the condition is changing or progressing.

Resources: https://www.dmd-guide.org/en-US/neuromuscular-management/what-assessments-should-be-done-and-why/
https://www.sralab.org/rehabilitation-measures/assessment-motor-and-process-skills

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-Inadequate care

-Emotional burnout

-Complications

-How can I help them live with this disease

-Education about the disease

-Poverty

-Resources for support groups

Resources: https://www.cedars-sinai.org/health-library/diseases-and-conditions---pediatrics/d/duchenne-muscular-dystrophy.html#:~:text=What%20is%20Duchenne%20muscular%20dystrophy,spreads%20throughout%20your%20child's%20body.

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Duchenne Muscular Dystrophy and Gene Therapy

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Duchenne Muscular Dystrophy and Gene Therapy

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Duchenne Muscular Dystrophy and Gene Therapy

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Resources for Child, Family, Practitioner

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Resources for Child, Family, Practitioner

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Website:
https://www.mda.org/sites/default/files/MDA-DMD-family-guide_18-0410.pdf

Book:
The Abilities in Me: Duchenne muscular dystrophy by Gemma Keir, Available on Amazon

Organizations:
https://www.mda.org/disease/duchenne-muscular-dystrophy

MDA Summer Camp:
https://youtu.be/CoakewmWqLM

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MDA Summer Camp Recruitment - Families (2016)

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1. What protein is affected in patients with Duchenne Muscular Dystrophy?

A) Osteonectin

B) Myoglobin

C) Dystrophin

D) Collagen

2. Who is the carrier of the Muscular Dystrophy gene?

A) Mother

B) Grandmother

C) Father

D) Grandfather

3. All of the following are symptoms of DMD EXCEPT.
A) Toe walking
B) Developmental delays
C) Scoliosis
D) Blindness

Correct answers: 1C, 2A, 3D

Resources: https://www.mda.org/disease/duchenne-muscular-dystrophy

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Client Factors & Performance Skills Impacted from DMD (from the OTPF-4)

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Client Factors & Performance Skills Impacted from DMD (from the OTPF-4)

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Occupations
-ADL's
-IADL's
-Health management
-Rest & Sleep
-Education
-Work
-Play
-Leisure
-Social Participation

Client Factors
Values, beliefs, spirituality, body functions, Neuromusculoskeletal and movement-related functions, voice and speech functions; digestive, metabolic, and endocrine system functions; genitourinary and reproductive functions, and body structures.

Performance Patterns:
Habits, routines, roles, and rituals

Reference: American Occupational Therapy Association. (2020). Occupational therapy practice framework: Domain and process fourth edition. American Journal of Occupational Therapy 74 (suppl. 2)