SlideShare a Scribd company logo
1 of 19
Navanidhan.M
I.M.Sc.Dept.of.Biotechnology,
Kongunadu Arts and Science College,
Coimbatore, Tamilnadu
Muscular A General Term for Tissue Degeneration.
 Muscular Dystrophies are a group of 9 types of muscular Dystrophies
affecting both the boys and Girls.
One of these is, Duchenne Muscular Dystrophy
 A Genetic disorder Characterized by Progressive Muscle Degeneration and weakness due to the
alterations of a protein called Dystrophin.
 Dystrophin helps to keep muscle cells intact.
 1st Described by Guillaume Benjamin Amand Duchenne in the 1860’s.
 In 1986,MDA-Supported researchers identified a particular gene on the X chromosome that ,when
Mutated leads to DMD
 In 1987, Dystrophin was identified and named.
The gradual muscle degeneration in people affected by
DMD Persists throughout their entire existence, yet it
tends to go unnoticed until a parent or caregiver identifies
unusual walking or speech patterns around the age of 3.
Source: NORD-National Organization for Rare Disorders,Inc.
Rare in Girls and Females has symptoms, Carriers have
Heart problems, shortness of breathe or Failure to do
moderate exercises.
Frequent falls
Difficulty rising from a lying or sitting position
Trouble running and jumping
Waddling gait
Walking on the toes
Large calf muscles
Muscle pain and stiffness
Learning disabilities
Delayed growth
Signs and symptoms, which typically appear in early childhood, might
include:
Human Dystrophin gene is the longest known gene, encompassing 2.6 million base
pairs of DNA and containing 79 exons. In these, 51 Exons are responsible for
DMD.
WHY IS IT SO IMPORTANT TO KNOW YOUR MUTATION?
1. To confirm your diagnosis.
2. To enable testing of family members.
3. To determine what mutation-specific therapies may benefit you.
5 General stages of Duchene;
1. Diagnosis (infancy/childhood)
2. Early ambulatory (childhood)
3. Late ambulatory (late childhood/adolescent/young adult)
4. Early non-ambulatory (adolescent/young adult)
5. Late non-ambulatory (adult)
Duchenne has 5 different stages.
 The dystrophin complex has been hypothesized to act as a membrane
stabilizer during muscle contraction to prevent contraction-induced damage.
 In addition to its structural role, dystrophin complex is also thought to
mediate cellular signaling such as Mechanical force transduction and cell
adhesion.
1. Due to a genetic mutation, dystrophin in
Duchenne Muscular Dystrophy becomes
extremely short and dysfunctional,
lacking the dystroglycan binding end.
2. Whenever muscles contract, minute
ruptures manifest in the membranes.
3. The myocyte's small rips promote
the diffusion of diverse molecules
into and out of its structure.
4. The most important substance
involved in damaging muscle is
calcium.
5. Calcium ions are abundantly present in the extracellular space surrounding
the myocyte. These ions enter through tiny openings and initiate the
activation of proteases.
6. In DMD, High calcium levels activate a surplus of proteases and destroys
the Normal functioning protein too.
7. Within the fissures, Creatine kinase, an important molecule, diffuses out of
the cell and eventually makes its way into the bloodstream.
8. The presence of heightened Kinases levels is commonly employed as a
diagnostic tool for DMD.
Source:@medicurio
Physical therapy
Particular operations could include muscle biopsies,
foot surgery, insertion of a feeding tube or spinal
surgery to correct spinal curvature caused by
scoliosis.
Surgery
The physical therapy treatment program included
gentle stretching, isometric muscle contraction of
quadriceps, hamstrings, anterior tibial group etc.
Source:@medicurio
Source:@medicurio
Source:@medicurio
Steroids
 Most neurologists recommend that people with Duchenne begin steroids before the
plateau phase (generally around 4-5 years of age).
 The corticosteroids Prednisone and Deflazacort are beneficial in the treatment of
DMD. The FDA on Feb. 9, 2017, approved deflazacort (brand name Emflaza).
Duchenne Muscular Dystrophy or DMD .pptx

More Related Content

Similar to Duchenne Muscular Dystrophy or DMD .pptx

71252786117d6aa1344a0f53179ba910 (1).pdf
71252786117d6aa1344a0f53179ba910 (1).pdf71252786117d6aa1344a0f53179ba910 (1).pdf
71252786117d6aa1344a0f53179ba910 (1).pdfSrajanKashyap2
 
Muscular Dystrophies in Childhood
Muscular Dystrophies in ChildhoodMuscular Dystrophies in Childhood
Muscular Dystrophies in ChildhoodPranav Pillai
 
Duchenne Muscular Dystophy ppt
Duchenne Muscular Dystophy pptDuchenne Muscular Dystophy ppt
Duchenne Muscular Dystophy pptmaask friend
 
Ayurvedic Research on Muscular Dystrophy
Ayurvedic Research on Muscular DystrophyAyurvedic Research on Muscular Dystrophy
Ayurvedic Research on Muscular DystrophyDr Mukesh D. Jain
 
Muscular Dystrophy Presentation - Neuroscience Class.pptx
Muscular Dystrophy Presentation - Neuroscience Class.pptxMuscular Dystrophy Presentation - Neuroscience Class.pptx
Muscular Dystrophy Presentation - Neuroscience Class.pptxIntan Dwikarlina
 
Myopathies and myotonic dystrophies
Myopathies and myotonic dystrophiesMyopathies and myotonic dystrophies
Myopathies and myotonic dystrophiesgargitignath12
 
General Biology Report.pptx
General Biology Report.pptxGeneral Biology Report.pptx
General Biology Report.pptxKylaMarieTangan
 
Muscular dystrophy
Muscular dystrophyMuscular dystrophy
Muscular dystrophyfitango
 

Similar to Duchenne Muscular Dystrophy or DMD .pptx (9)

71252786117d6aa1344a0f53179ba910 (1).pdf
71252786117d6aa1344a0f53179ba910 (1).pdf71252786117d6aa1344a0f53179ba910 (1).pdf
71252786117d6aa1344a0f53179ba910 (1).pdf
 
Muscular Dystrophies in Childhood
Muscular Dystrophies in ChildhoodMuscular Dystrophies in Childhood
Muscular Dystrophies in Childhood
 
Muscular dystrophy
Muscular dystrophyMuscular dystrophy
Muscular dystrophy
 
Duchenne Muscular Dystophy ppt
Duchenne Muscular Dystophy pptDuchenne Muscular Dystophy ppt
Duchenne Muscular Dystophy ppt
 
Ayurvedic Research on Muscular Dystrophy
Ayurvedic Research on Muscular DystrophyAyurvedic Research on Muscular Dystrophy
Ayurvedic Research on Muscular Dystrophy
 
Muscular Dystrophy Presentation - Neuroscience Class.pptx
Muscular Dystrophy Presentation - Neuroscience Class.pptxMuscular Dystrophy Presentation - Neuroscience Class.pptx
Muscular Dystrophy Presentation - Neuroscience Class.pptx
 
Myopathies and myotonic dystrophies
Myopathies and myotonic dystrophiesMyopathies and myotonic dystrophies
Myopathies and myotonic dystrophies
 
General Biology Report.pptx
General Biology Report.pptxGeneral Biology Report.pptx
General Biology Report.pptx
 
Muscular dystrophy
Muscular dystrophyMuscular dystrophy
Muscular dystrophy
 

Recently uploaded

Radiation physics in Dental Radiology...
Radiation physics in Dental Radiology...Radiation physics in Dental Radiology...
Radiation physics in Dental Radiology...navyadasi1992
 
OECD bibliometric indicators: Selected highlights, April 2024
OECD bibliometric indicators: Selected highlights, April 2024OECD bibliometric indicators: Selected highlights, April 2024
OECD bibliometric indicators: Selected highlights, April 2024innovationoecd
 
Call Girls in Majnu Ka Tilla Delhi 🔝9711014705🔝 Genuine
Call Girls in Majnu Ka Tilla Delhi 🔝9711014705🔝 GenuineCall Girls in Majnu Ka Tilla Delhi 🔝9711014705🔝 Genuine
Call Girls in Majnu Ka Tilla Delhi 🔝9711014705🔝 Genuinethapagita
 
Environmental Biotechnology Topic:- Microbial Biosensor
Environmental Biotechnology Topic:- Microbial BiosensorEnvironmental Biotechnology Topic:- Microbial Biosensor
Environmental Biotechnology Topic:- Microbial Biosensorsonawaneprad
 
Thermodynamics ,types of system,formulae ,gibbs free energy .pptx
Thermodynamics ,types of system,formulae ,gibbs free energy .pptxThermodynamics ,types of system,formulae ,gibbs free energy .pptx
Thermodynamics ,types of system,formulae ,gibbs free energy .pptxuniversity
 
Pests of soyabean_Binomics_IdentificationDr.UPR.pdf
Pests of soyabean_Binomics_IdentificationDr.UPR.pdfPests of soyabean_Binomics_IdentificationDr.UPR.pdf
Pests of soyabean_Binomics_IdentificationDr.UPR.pdfPirithiRaju
 
ALL ABOUT MIXTURES IN GRADE 7 CLASS PPTX
ALL ABOUT MIXTURES IN GRADE 7 CLASS PPTXALL ABOUT MIXTURES IN GRADE 7 CLASS PPTX
ALL ABOUT MIXTURES IN GRADE 7 CLASS PPTXDole Philippines School
 
basic entomology with insect anatomy and taxonomy
basic entomology with insect anatomy and taxonomybasic entomology with insect anatomy and taxonomy
basic entomology with insect anatomy and taxonomyDrAnita Sharma
 
Bioteknologi kelas 10 kumer smapsa .pptx
Bioteknologi kelas 10 kumer smapsa .pptxBioteknologi kelas 10 kumer smapsa .pptx
Bioteknologi kelas 10 kumer smapsa .pptx023NiWayanAnggiSriWa
 
Best Call Girls In Sector 29 Gurgaon❤️8860477959 EscorTs Service In 24/7 Delh...
Best Call Girls In Sector 29 Gurgaon❤️8860477959 EscorTs Service In 24/7 Delh...Best Call Girls In Sector 29 Gurgaon❤️8860477959 EscorTs Service In 24/7 Delh...
Best Call Girls In Sector 29 Gurgaon❤️8860477959 EscorTs Service In 24/7 Delh...lizamodels9
 
The dark energy paradox leads to a new structure of spacetime.pptx
The dark energy paradox leads to a new structure of spacetime.pptxThe dark energy paradox leads to a new structure of spacetime.pptx
The dark energy paradox leads to a new structure of spacetime.pptxEran Akiva Sinbar
 
Davis plaque method.pptx recombinant DNA technology
Davis plaque method.pptx recombinant DNA technologyDavis plaque method.pptx recombinant DNA technology
Davis plaque method.pptx recombinant DNA technologycaarthichand2003
 
GENERAL PHYSICS 2 REFRACTION OF LIGHT SENIOR HIGH SCHOOL GENPHYS2.pptx
GENERAL PHYSICS 2 REFRACTION OF LIGHT SENIOR HIGH SCHOOL GENPHYS2.pptxGENERAL PHYSICS 2 REFRACTION OF LIGHT SENIOR HIGH SCHOOL GENPHYS2.pptx
GENERAL PHYSICS 2 REFRACTION OF LIGHT SENIOR HIGH SCHOOL GENPHYS2.pptxRitchAndruAgustin
 
PROJECTILE MOTION-Horizontal and Vertical
PROJECTILE MOTION-Horizontal and VerticalPROJECTILE MOTION-Horizontal and Vertical
PROJECTILE MOTION-Horizontal and VerticalMAESTRELLAMesa2
 
BIOETHICS IN RECOMBINANT DNA TECHNOLOGY.
BIOETHICS IN RECOMBINANT DNA TECHNOLOGY.BIOETHICS IN RECOMBINANT DNA TECHNOLOGY.
BIOETHICS IN RECOMBINANT DNA TECHNOLOGY.PraveenaKalaiselvan1
 
User Guide: Magellan MX™ Weather Station
User Guide: Magellan MX™ Weather StationUser Guide: Magellan MX™ Weather Station
User Guide: Magellan MX™ Weather StationColumbia Weather Systems
 
Servosystem Theory / Cybernetic Theory by Petrovic
Servosystem Theory / Cybernetic Theory by PetrovicServosystem Theory / Cybernetic Theory by Petrovic
Servosystem Theory / Cybernetic Theory by PetrovicAditi Jain
 
Pests of castor_Binomics_Identification_Dr.UPR.pdf
Pests of castor_Binomics_Identification_Dr.UPR.pdfPests of castor_Binomics_Identification_Dr.UPR.pdf
Pests of castor_Binomics_Identification_Dr.UPR.pdfPirithiRaju
 
(9818099198) Call Girls In Noida Sector 14 (NOIDA ESCORTS)
(9818099198) Call Girls In Noida Sector 14 (NOIDA ESCORTS)(9818099198) Call Girls In Noida Sector 14 (NOIDA ESCORTS)
(9818099198) Call Girls In Noida Sector 14 (NOIDA ESCORTS)riyaescorts54
 

Recently uploaded (20)

Radiation physics in Dental Radiology...
Radiation physics in Dental Radiology...Radiation physics in Dental Radiology...
Radiation physics in Dental Radiology...
 
OECD bibliometric indicators: Selected highlights, April 2024
OECD bibliometric indicators: Selected highlights, April 2024OECD bibliometric indicators: Selected highlights, April 2024
OECD bibliometric indicators: Selected highlights, April 2024
 
Call Girls in Majnu Ka Tilla Delhi 🔝9711014705🔝 Genuine
Call Girls in Majnu Ka Tilla Delhi 🔝9711014705🔝 GenuineCall Girls in Majnu Ka Tilla Delhi 🔝9711014705🔝 Genuine
Call Girls in Majnu Ka Tilla Delhi 🔝9711014705🔝 Genuine
 
Environmental Biotechnology Topic:- Microbial Biosensor
Environmental Biotechnology Topic:- Microbial BiosensorEnvironmental Biotechnology Topic:- Microbial Biosensor
Environmental Biotechnology Topic:- Microbial Biosensor
 
Thermodynamics ,types of system,formulae ,gibbs free energy .pptx
Thermodynamics ,types of system,formulae ,gibbs free energy .pptxThermodynamics ,types of system,formulae ,gibbs free energy .pptx
Thermodynamics ,types of system,formulae ,gibbs free energy .pptx
 
Pests of soyabean_Binomics_IdentificationDr.UPR.pdf
Pests of soyabean_Binomics_IdentificationDr.UPR.pdfPests of soyabean_Binomics_IdentificationDr.UPR.pdf
Pests of soyabean_Binomics_IdentificationDr.UPR.pdf
 
ALL ABOUT MIXTURES IN GRADE 7 CLASS PPTX
ALL ABOUT MIXTURES IN GRADE 7 CLASS PPTXALL ABOUT MIXTURES IN GRADE 7 CLASS PPTX
ALL ABOUT MIXTURES IN GRADE 7 CLASS PPTX
 
basic entomology with insect anatomy and taxonomy
basic entomology with insect anatomy and taxonomybasic entomology with insect anatomy and taxonomy
basic entomology with insect anatomy and taxonomy
 
Let’s Say Someone Did Drop the Bomb. Then What?
Let’s Say Someone Did Drop the Bomb. Then What?Let’s Say Someone Did Drop the Bomb. Then What?
Let’s Say Someone Did Drop the Bomb. Then What?
 
Bioteknologi kelas 10 kumer smapsa .pptx
Bioteknologi kelas 10 kumer smapsa .pptxBioteknologi kelas 10 kumer smapsa .pptx
Bioteknologi kelas 10 kumer smapsa .pptx
 
Best Call Girls In Sector 29 Gurgaon❤️8860477959 EscorTs Service In 24/7 Delh...
Best Call Girls In Sector 29 Gurgaon❤️8860477959 EscorTs Service In 24/7 Delh...Best Call Girls In Sector 29 Gurgaon❤️8860477959 EscorTs Service In 24/7 Delh...
Best Call Girls In Sector 29 Gurgaon❤️8860477959 EscorTs Service In 24/7 Delh...
 
The dark energy paradox leads to a new structure of spacetime.pptx
The dark energy paradox leads to a new structure of spacetime.pptxThe dark energy paradox leads to a new structure of spacetime.pptx
The dark energy paradox leads to a new structure of spacetime.pptx
 
Davis plaque method.pptx recombinant DNA technology
Davis plaque method.pptx recombinant DNA technologyDavis plaque method.pptx recombinant DNA technology
Davis plaque method.pptx recombinant DNA technology
 
GENERAL PHYSICS 2 REFRACTION OF LIGHT SENIOR HIGH SCHOOL GENPHYS2.pptx
GENERAL PHYSICS 2 REFRACTION OF LIGHT SENIOR HIGH SCHOOL GENPHYS2.pptxGENERAL PHYSICS 2 REFRACTION OF LIGHT SENIOR HIGH SCHOOL GENPHYS2.pptx
GENERAL PHYSICS 2 REFRACTION OF LIGHT SENIOR HIGH SCHOOL GENPHYS2.pptx
 
PROJECTILE MOTION-Horizontal and Vertical
PROJECTILE MOTION-Horizontal and VerticalPROJECTILE MOTION-Horizontal and Vertical
PROJECTILE MOTION-Horizontal and Vertical
 
BIOETHICS IN RECOMBINANT DNA TECHNOLOGY.
BIOETHICS IN RECOMBINANT DNA TECHNOLOGY.BIOETHICS IN RECOMBINANT DNA TECHNOLOGY.
BIOETHICS IN RECOMBINANT DNA TECHNOLOGY.
 
User Guide: Magellan MX™ Weather Station
User Guide: Magellan MX™ Weather StationUser Guide: Magellan MX™ Weather Station
User Guide: Magellan MX™ Weather Station
 
Servosystem Theory / Cybernetic Theory by Petrovic
Servosystem Theory / Cybernetic Theory by PetrovicServosystem Theory / Cybernetic Theory by Petrovic
Servosystem Theory / Cybernetic Theory by Petrovic
 
Pests of castor_Binomics_Identification_Dr.UPR.pdf
Pests of castor_Binomics_Identification_Dr.UPR.pdfPests of castor_Binomics_Identification_Dr.UPR.pdf
Pests of castor_Binomics_Identification_Dr.UPR.pdf
 
(9818099198) Call Girls In Noida Sector 14 (NOIDA ESCORTS)
(9818099198) Call Girls In Noida Sector 14 (NOIDA ESCORTS)(9818099198) Call Girls In Noida Sector 14 (NOIDA ESCORTS)
(9818099198) Call Girls In Noida Sector 14 (NOIDA ESCORTS)
 

Duchenne Muscular Dystrophy or DMD .pptx

  • 1. Navanidhan.M I.M.Sc.Dept.of.Biotechnology, Kongunadu Arts and Science College, Coimbatore, Tamilnadu
  • 2. Muscular A General Term for Tissue Degeneration.  Muscular Dystrophies are a group of 9 types of muscular Dystrophies affecting both the boys and Girls. One of these is, Duchenne Muscular Dystrophy
  • 3.  A Genetic disorder Characterized by Progressive Muscle Degeneration and weakness due to the alterations of a protein called Dystrophin.  Dystrophin helps to keep muscle cells intact.  1st Described by Guillaume Benjamin Amand Duchenne in the 1860’s.  In 1986,MDA-Supported researchers identified a particular gene on the X chromosome that ,when Mutated leads to DMD  In 1987, Dystrophin was identified and named.
  • 4. The gradual muscle degeneration in people affected by DMD Persists throughout their entire existence, yet it tends to go unnoticed until a parent or caregiver identifies unusual walking or speech patterns around the age of 3.
  • 5. Source: NORD-National Organization for Rare Disorders,Inc. Rare in Girls and Females has symptoms, Carriers have Heart problems, shortness of breathe or Failure to do moderate exercises.
  • 6. Frequent falls Difficulty rising from a lying or sitting position Trouble running and jumping Waddling gait Walking on the toes Large calf muscles Muscle pain and stiffness Learning disabilities Delayed growth Signs and symptoms, which typically appear in early childhood, might include:
  • 7. Human Dystrophin gene is the longest known gene, encompassing 2.6 million base pairs of DNA and containing 79 exons. In these, 51 Exons are responsible for DMD. WHY IS IT SO IMPORTANT TO KNOW YOUR MUTATION? 1. To confirm your diagnosis. 2. To enable testing of family members. 3. To determine what mutation-specific therapies may benefit you.
  • 8. 5 General stages of Duchene; 1. Diagnosis (infancy/childhood) 2. Early ambulatory (childhood) 3. Late ambulatory (late childhood/adolescent/young adult) 4. Early non-ambulatory (adolescent/young adult) 5. Late non-ambulatory (adult) Duchenne has 5 different stages.
  • 9.  The dystrophin complex has been hypothesized to act as a membrane stabilizer during muscle contraction to prevent contraction-induced damage.  In addition to its structural role, dystrophin complex is also thought to mediate cellular signaling such as Mechanical force transduction and cell adhesion.
  • 10. 1. Due to a genetic mutation, dystrophin in Duchenne Muscular Dystrophy becomes extremely short and dysfunctional, lacking the dystroglycan binding end. 2. Whenever muscles contract, minute ruptures manifest in the membranes. 3. The myocyte's small rips promote the diffusion of diverse molecules into and out of its structure. 4. The most important substance involved in damaging muscle is calcium.
  • 11. 5. Calcium ions are abundantly present in the extracellular space surrounding the myocyte. These ions enter through tiny openings and initiate the activation of proteases. 6. In DMD, High calcium levels activate a surplus of proteases and destroys the Normal functioning protein too.
  • 12. 7. Within the fissures, Creatine kinase, an important molecule, diffuses out of the cell and eventually makes its way into the bloodstream. 8. The presence of heightened Kinases levels is commonly employed as a diagnostic tool for DMD.
  • 14. Physical therapy Particular operations could include muscle biopsies, foot surgery, insertion of a feeding tube or spinal surgery to correct spinal curvature caused by scoliosis. Surgery The physical therapy treatment program included gentle stretching, isometric muscle contraction of quadriceps, hamstrings, anterior tibial group etc.
  • 18. Steroids  Most neurologists recommend that people with Duchenne begin steroids before the plateau phase (generally around 4-5 years of age).  The corticosteroids Prednisone and Deflazacort are beneficial in the treatment of DMD. The FDA on Feb. 9, 2017, approved deflazacort (brand name Emflaza).