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BY
Dr. Venkatesh
MPT(Neurology)
Muscular Dystrophy :-
It is an Autosomal Dominant disorder.
Muscular dystrophies are characterized by
progressive skeletal muscle weakness.
 Defects in muscle proteins, and the death of
muscle cells and tissue
French neurologist Guillaume Duchenne has first
found this disease -which now carries his name—
Duchenne muscular dystrophy.
Clinical Features :-
 Progressive muscular wasting
 Poor balance
 Atrophy
 Scoliosis (curvature of the spine and the back)
 Inability to walk.
 Frequent falls
 Waddling gait.
 Calf deformation.
 Limited range of movement .
 Respiratory difficulty
 Muscle spasms.
 Gowers' sign[10]
Gower’s Sign :-
 Gowers' sign is a medical sign that indicates
weakness of the proximal muscles, namely those
of the lower limb. The sign describes a patient
that has to use his hands and arms to "walk" up
his own body from a squatting position due to
lack of hip and thigh muscle strength.
Causes Of MD :-
 Muscular Dystrophy is genetically inherited,
 However, mutations of the dystrophin gene and
nutritional deficits are responsible for the disease.
 The main cause of the disease is due to the lack of
Muscle proteins like
 Dystrophin and Dystrophin Associated Protein
Complex.
Types :-
 There are Around 30 Types of Muscular Dystrophies
out of
 Duchenne Muscular Dystrophy.
 Becker’s Muscular Dystrophy .
 Limb-girdle Muscular dystrophy
 Myotonic Muscular dystrophy
are Common
Diagnosis :-
 The diagnosis of muscular dystrophy is based on the results
of
 Muscle biopsy,
 Increased creatine phosphokinase (CpK3),
 Electromyography,
 Electrocardiography
 DNA analysis.
Treatment :-
 There is no cure for any form of muscular dystrophy.
 In Duchenne muscular dystrophy, corticosteriods may
slow muscle destruction.
 In myotonic muscular dystrophy, phenytoin,
procainamide, or quinine can treat delayed muscle
relaxation.
 Gene Transplation Researches are going on
Physiotherapy Management :-
 Duchenne muscular dystrophy is often divided into 3
stages
 Early stage
 Transitional Stage
 Late / Non Ambulatory Stage
EARLY STAGE :-
Weakness of
Hip :- Extensors (Gluteus Maximus),
Abductors(G.Medius) Adductors become weak
Ankle Dorsiflexors become weak
Abdominals , Neck Flexors ,Shoulder Abductors
,Shoulder Elevators and depressors are also involved
Compensations of Early stage :-
 Increased Lumbar Lordosis
 Lack of heel strike
 Increased hip flexion during swing to clear foot
 Foot may be Pronated and Everted
 Cadence is decreased (Speed)
Transitional Stage :-
 Progression of Muscles Listed in Early stage
 With more marked Increased weakness in
Quadriceps & Ankle Evertors.
o Compensations:-
o Base of support widens.
o More increased Falls
o Knee Buckling(Quads weakness) Causes more falls
. Tightness Develops in muscles like
 Illio Tibial Band and Tensor facia lata.
 Hip Flexors
 Hamstrings
 Gastrosoleus
 Posterior Tibialis
Functional Losses :-
1. Inactivity of Elevation against gravity
2. Inability to rise from floor
3. Inability in stair Climbing
4. Difficulty from rising of a chair
LATE OR NON –AMBULATORY
STAGE :-
 Upper limb weakness becomes more prominent
Elbow extension weaker than Flexion
Fore arm supination is weaker than pronation
Wrist & Finger extension weaker than Flexion
Scoliosis is seen Caused due to (posterior pelvic tilt)
Compensations:-
1.Leaning for stability
2.Contralateral trunk leaning to compensate upper extremity
function
3.Using Mouth to grab fingers to compensate UE function
RESPIRATORY INVOLVEMENT:-
 Respiratory insufficiency is major cause of death in 90% of DMD
patients
• Causes of Respiratory Problems
• Less inspiration due to muscle weakness
• Decreased Lung Expansion
• Decreased Coughing ability
• Restricted Chest wall Mobility
• Impact of Spinal Deformity
CARDIAC INVOLVEMENT :-
 Cardiac muscle is affected by Dystrophic process.
 Myocardial fibrosis may occur primarily involving walls of left
ventricle.
 Spectrum of abnormalities with Cardiac involvement includes
 AV Block
 Atrial paralysis
 Atrial Fibrillation
 Ventricular arrhythmias
 Conduction Defects
 Reduced Ejection Fraction
GOALS OF Physiotherapy
Management :-
 Long Term Goals:-
1.To Prevent Deformity
2.To Maximise & maintain Strength of muscles
3.To Maximise & maintain Respiratory status
4.To maintain Ambulation as long as possible
5.To maintain highest posssible level of
Functional independence
6. Using Adaptive Equipment and Orthotics as
needed
SHORT TERM GOALS :-
 To increase or maintain Range of motion of joints
 To increase or maintain Strength & Endurance.
 To pramote Optimal body alignment & symmetry
 To maintain sitting ability
 To provide an active respiratory programme.
 To strengthen or maintain respiratory muscle endurance
 To establish and monitor Home programmes
 To promote Relaxation & comfort
ASSESSMENT :-
 Range of Motion
 Assesment in all positions & Transition between
positions
 MMT (Manual Muscle Testing)
 Vital capacity Analysis ( Spirometry)
 Patterns of Breathing
 Gait Assesment
 Assesment of ADL acivities (Functional Activity scale)
 Physical Environment & Accesibility
PT – Management :-
 Early stage:-
Education of family , prevention of deformity
Maximizing Strength & Functional capabilities
Intervention to maintain Ambulation.
o Transitional stage :-
Strechings to muscles
Lower Extremities –
Illiotibial bands , Tensor facia lata
Hipflexors, Hamstrings, gastrosoleus , posterior Tibialis
Upper Extremities :-
Elbow Flexors ,Fore arm pronators , Wrist and finger flexors
.
 Passive streching must be done and it is best achived by
standing
 PNF Techniques (hold/relax)
 Joint Mobilization – Patella,elbow,anterior and posterior
movements of tibia on femur
 Myofacial release
 Moist Heat – to increase comfort & plasticity of tissue
increases but excessive heat should ne avoided it can
damage tissue.
 Positioning – Prone Lying and Wheel chair Positioning
should be trained
Late Stage :-
 Continuation of Programme in transitional stage
 Long periods of Rest and Immobility are avoided
 Position and support for fuction
 Swimming ( Hydrotherapy)
 Trike Riding (Not Uphill)
 Promotion of Orthotics in case of deformities HKAFO
 Gait Training in Parlell bars
 Transitions from one position to other
 (Sitting to standing-Standing to sitting )
 Spinal Bracing To avoid /Correct Scoliosis.
HKAFO Spinal Brace
 .
Respiratory Management:-
Inspiratory Breathing / Segmental breathing .
 to strengthen Diaphragm
 For lung Expansion and chest wall mobility
 For efficient breathing
GPB- Glossopharangeal breathing
(means of pistoning air into the lungs to volumes greater than can be
achieved by the person's breathing muscles (greater than maximum
inspiratory capacity). The technique involves the use of the glottis )
Postural drainage as necessary by percussions & oscillations
Periodic review of bronchial hygeine at home
Surgeries :-
 Spinal surgeries like
Segmental Stabilization of spine is achived by spinal
surgeries to prevent the abnormal curvature of spine
.
 Thank you

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Muscular dystrophy

  • 2. Muscular Dystrophy :- It is an Autosomal Dominant disorder. Muscular dystrophies are characterized by progressive skeletal muscle weakness.  Defects in muscle proteins, and the death of muscle cells and tissue French neurologist Guillaume Duchenne has first found this disease -which now carries his name— Duchenne muscular dystrophy.
  • 3. Clinical Features :-  Progressive muscular wasting  Poor balance  Atrophy  Scoliosis (curvature of the spine and the back)  Inability to walk.  Frequent falls  Waddling gait.  Calf deformation.  Limited range of movement .  Respiratory difficulty  Muscle spasms.  Gowers' sign[10]
  • 4. Gower’s Sign :-  Gowers' sign is a medical sign that indicates weakness of the proximal muscles, namely those of the lower limb. The sign describes a patient that has to use his hands and arms to "walk" up his own body from a squatting position due to lack of hip and thigh muscle strength.
  • 5. Causes Of MD :-  Muscular Dystrophy is genetically inherited,  However, mutations of the dystrophin gene and nutritional deficits are responsible for the disease.  The main cause of the disease is due to the lack of Muscle proteins like  Dystrophin and Dystrophin Associated Protein Complex.
  • 6. Types :-  There are Around 30 Types of Muscular Dystrophies out of  Duchenne Muscular Dystrophy.  Becker’s Muscular Dystrophy .  Limb-girdle Muscular dystrophy  Myotonic Muscular dystrophy are Common
  • 7. Diagnosis :-  The diagnosis of muscular dystrophy is based on the results of  Muscle biopsy,  Increased creatine phosphokinase (CpK3),  Electromyography,  Electrocardiography  DNA analysis.
  • 8. Treatment :-  There is no cure for any form of muscular dystrophy.  In Duchenne muscular dystrophy, corticosteriods may slow muscle destruction.  In myotonic muscular dystrophy, phenytoin, procainamide, or quinine can treat delayed muscle relaxation.  Gene Transplation Researches are going on
  • 9. Physiotherapy Management :-  Duchenne muscular dystrophy is often divided into 3 stages  Early stage  Transitional Stage  Late / Non Ambulatory Stage
  • 10. EARLY STAGE :- Weakness of Hip :- Extensors (Gluteus Maximus), Abductors(G.Medius) Adductors become weak Ankle Dorsiflexors become weak Abdominals , Neck Flexors ,Shoulder Abductors ,Shoulder Elevators and depressors are also involved
  • 11. Compensations of Early stage :-  Increased Lumbar Lordosis  Lack of heel strike  Increased hip flexion during swing to clear foot  Foot may be Pronated and Everted  Cadence is decreased (Speed)
  • 12. Transitional Stage :-  Progression of Muscles Listed in Early stage  With more marked Increased weakness in Quadriceps & Ankle Evertors. o Compensations:- o Base of support widens. o More increased Falls o Knee Buckling(Quads weakness) Causes more falls
  • 13. . Tightness Develops in muscles like  Illio Tibial Band and Tensor facia lata.  Hip Flexors  Hamstrings  Gastrosoleus  Posterior Tibialis Functional Losses :- 1. Inactivity of Elevation against gravity 2. Inability to rise from floor 3. Inability in stair Climbing 4. Difficulty from rising of a chair
  • 14. LATE OR NON –AMBULATORY STAGE :-  Upper limb weakness becomes more prominent Elbow extension weaker than Flexion Fore arm supination is weaker than pronation Wrist & Finger extension weaker than Flexion Scoliosis is seen Caused due to (posterior pelvic tilt) Compensations:- 1.Leaning for stability 2.Contralateral trunk leaning to compensate upper extremity function 3.Using Mouth to grab fingers to compensate UE function
  • 15. RESPIRATORY INVOLVEMENT:-  Respiratory insufficiency is major cause of death in 90% of DMD patients • Causes of Respiratory Problems • Less inspiration due to muscle weakness • Decreased Lung Expansion • Decreased Coughing ability • Restricted Chest wall Mobility • Impact of Spinal Deformity
  • 16. CARDIAC INVOLVEMENT :-  Cardiac muscle is affected by Dystrophic process.  Myocardial fibrosis may occur primarily involving walls of left ventricle.  Spectrum of abnormalities with Cardiac involvement includes  AV Block  Atrial paralysis  Atrial Fibrillation  Ventricular arrhythmias  Conduction Defects  Reduced Ejection Fraction
  • 17. GOALS OF Physiotherapy Management :-  Long Term Goals:- 1.To Prevent Deformity 2.To Maximise & maintain Strength of muscles 3.To Maximise & maintain Respiratory status 4.To maintain Ambulation as long as possible 5.To maintain highest posssible level of Functional independence 6. Using Adaptive Equipment and Orthotics as needed
  • 18. SHORT TERM GOALS :-  To increase or maintain Range of motion of joints  To increase or maintain Strength & Endurance.  To pramote Optimal body alignment & symmetry  To maintain sitting ability  To provide an active respiratory programme.  To strengthen or maintain respiratory muscle endurance  To establish and monitor Home programmes  To promote Relaxation & comfort
  • 19. ASSESSMENT :-  Range of Motion  Assesment in all positions & Transition between positions  MMT (Manual Muscle Testing)  Vital capacity Analysis ( Spirometry)  Patterns of Breathing  Gait Assesment  Assesment of ADL acivities (Functional Activity scale)  Physical Environment & Accesibility
  • 20. PT – Management :-  Early stage:- Education of family , prevention of deformity Maximizing Strength & Functional capabilities Intervention to maintain Ambulation. o Transitional stage :- Strechings to muscles Lower Extremities – Illiotibial bands , Tensor facia lata Hipflexors, Hamstrings, gastrosoleus , posterior Tibialis Upper Extremities :- Elbow Flexors ,Fore arm pronators , Wrist and finger flexors
  • 21. .  Passive streching must be done and it is best achived by standing  PNF Techniques (hold/relax)  Joint Mobilization – Patella,elbow,anterior and posterior movements of tibia on femur  Myofacial release  Moist Heat – to increase comfort & plasticity of tissue increases but excessive heat should ne avoided it can damage tissue.  Positioning – Prone Lying and Wheel chair Positioning should be trained
  • 22. Late Stage :-  Continuation of Programme in transitional stage  Long periods of Rest and Immobility are avoided  Position and support for fuction  Swimming ( Hydrotherapy)  Trike Riding (Not Uphill)  Promotion of Orthotics in case of deformities HKAFO  Gait Training in Parlell bars  Transitions from one position to other  (Sitting to standing-Standing to sitting )  Spinal Bracing To avoid /Correct Scoliosis.
  • 24. Respiratory Management:- Inspiratory Breathing / Segmental breathing .  to strengthen Diaphragm  For lung Expansion and chest wall mobility  For efficient breathing GPB- Glossopharangeal breathing (means of pistoning air into the lungs to volumes greater than can be achieved by the person's breathing muscles (greater than maximum inspiratory capacity). The technique involves the use of the glottis ) Postural drainage as necessary by percussions & oscillations Periodic review of bronchial hygeine at home
  • 25. Surgeries :-  Spinal surgeries like Segmental Stabilization of spine is achived by spinal surgeries to prevent the abnormal curvature of spine