the following ppt gives an in depth analysis on muscular dystrophy, it's types and progression. it also describes about early treatment plan in medical field and detailed step by step breakdown of rehabilitation in physiotherapy.

1. MUSCULAR DYSTROPHY
PRESENTED BY:
SHRUTI MOHAN

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INTRODUCTION
• Muscular dystrophy is a collective
group of inherited non
inflammatory but progressive
muscle disorders without a central
or peripheral nerve abnormality
• All muscular dystrophies have in
common progressive muscle
weakness that tends to occur in a
proximal to distal direction,
although there are some rare distal
myopathies that cause
predominantly distal weakness.
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CLASSIFICATION
X-linked recessive Autosomal recessive Autosomal
dominant
Duchenne Limb-girdle type Facioscapulohumeral
Becker Childhood type Emery- Dreifuss
McLeod’s type Congenital muscular Oculopharyngeal
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DUCHENNE MUSCULAR
DYSTROPHY
• It is caused by deletion of a large gene in the p21 region of
the short arm of the X-chromosome, resulting in the
deficiency of a muscle protein called dystrophin.
• Dystrophin is distributed widely in the body. It is
concentrated in skeletal and cardiac muscle and found in
small quantities in smooth muscle, brain, lungs and skin.
• Deficiency of dystrophin impairs fast muscle fiber
function. These fibers are the first to degenerate, followed
by degeneration of other muscle fibers, until the entire
muscle is replaced by fatty and fibrous tissue
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CLINICAL FEATURES
• Poor head control in infancy is noticed. Weakness of neck flexors is an early sign.
• The extensors of the hip are weak and to compensate for this the child may assume lordotic posture
and gait.
• Gowers’ sign: This is a clinical assessment of pelvic muscle weakness in Duchenne muscular dystrophy.
It is performed by asking the child to get up from the floor. Due to pelvic muscle weakness while
attempting to get up the child will ‘climb up himself’, i.e. with the support of upper limbs on the ground
and gradually on the knees and coming to stand.
• Pharyngeal weakness may lead to episodes of aspiration and regurgitation of liquids and the voice
may have a nasal or airy quality.
• Muscle weakness is proximal, symmetrical and progressive in a fairly predictable pattern Shoulder
girdle weakness appears later making it progressively difficult to lift the arm above the shoulder, and
interfering with ADL. There is pseudohypertrophy of the calves and sometimes quadriceps, glutei,
tongue and deltoid.
• Other systemic manifestations are short stature, growth retardation, and increased head
circumference, impairment in locomotor and language areas.

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STAGES
• up to 7 years ambulatory stage.
• up to 12 years wheelchair bound
• up to 19-20 years bed bound
• Death occurs around the 3rd decade, due to chest
infection or cardio myopathy.
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COMPLICATIONS
• Respiratory: Respiratory complications are the most frequent and the most
common cause of death in DMD. These include recurrent respiratory tract
infections, restrictive pulmonary disease and chronic alveolar hypoventilation. Cor
pulmonale and ventricular failure may eventually develop.
• Cardiomyopathy can occur in patients with DMD as well as in carriers.
• Scoliosis begins during the ambulatory stage and progresses rapidly once the child
is wheelchair bound. Spinal deformity is present in almost 90% of children with
DMD and continues to progress throughout life. Scoliosis adds to the respiratory
complications by reducing vital capacity.
• Contractures appear early in DMD, especially in the lower limbs. Hip flexion
deformity, iliotibial band tightness, knee flexion deformity, equinus contracture, all
diminish the ability to walk.
• In the upper limbs, the habitual flexed position of the elbows in patients using
wheelchairs may lead to elbow flexion contractures
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INVESTIGATIONS
• Serum muscle enzyme estimations: Creatine phosphokinase
(CPK) levels are greater than 10 times normal in children with
DMD, 2-5 times normal in carriers
• EMG studies: Supports the diagnosis and forms an important
investigation to detect early cases with no specific family history.
It shows denervated potentials in the skeletal muscles in DMD. It
records spontaneous mutation states but not carrier states.
• Muscle biopsy is diagnostic: Shows areas of degeneration and
regeneration in the muscle.
• ECG, and echocardiogram to assess cardiac status.
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LIMB GIRDLE MUSCULAR
DYSTROPHY
• It represents a group of progressive hereditary
myopathies that mainly affect muscles of the hip and
shoulder girdles. Most cases of limb-girdle muscular
dystrophy are of autosomal recessive inheritance, but
some families express an autosomal dominant trait.
It rarely appears before middle or late childhood and
may be deferred until early adult life
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CLINICAL FEATURES
• It is an autosomal recessive disease.
• Muscle involvement may be asymmetrical
• Onset is usually in the pelvic or shoulder girdle muscles.
• The disease usually progresses slowly except in some cases. Proximal muscle
weakness occurs and later involves distal groups too. The ECG may be
normal.
• The patient adopts a lordotic posture which may ultimately lead to low back
pain.
• Tendon reflexes become diminished.
• There is weakness of neck flexors and extensors and hypertrophy of the
calves
• Ankle contractures develop in some form
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FACIOSCAPULOHUMERAL
MUSCULAR DYSTROPHY
• Facioscapulohumeral muscular dystrophy, also known as
Landouzy-Dejerine disease is a group of diseases with
similar clinical manifestations and autosomal dominance

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CLINICAL FEATURES
• Scapular winging is prominent.
• Severe weakness in facial and shoulder girdle muscles.
• There may be flattening or even concavity of the deltoid contour.
• Muscles of the arm are weak.
• The eye remains open during sleep.
• The extra ocular muscles become weak.
• Foot drop may be present because of weakness of dorsiflexors
• Involvement of chest and upper back muscles.
• Pelvic muscles and quadriceps may eventually become involved.
• Protrusion of buttocks is observed.
• Life expectancy may be normal since the cardiac muscle is not involved

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BECKER MUSCULAR DYSTROPHY
• Becker muscular dystrophy (BMD) is an X-linked recessive
disorder due to mutation in the dystrophin gene that results
in progressive muscle degeneration and proximal muscle
weakness. This condition is less common and less severe
than Duchenne muscular dystrophy (DMD). The onset of
symptoms is late compared to Duchenne muscular
dystrophy, although it varies widely between 5 to 60 years of
age.

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COMPLICATIONS
• Progressive deterioration of the disease process is
complicated by cardiomyopathy, progressive loss of
pulmonary and liver functions, loss of ambulation, cognitive
impairment, and bone fractures. All patients have a high
chance of postoperative chest infections.

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EMERY-DREIFUSS MUSCULAR
DYSTROPHY
• Emery‐ Dreifuss muscular dystrophy (EDMD) is a rare
muscular dystrophy, but is particularly important to
diagnose due to frequent life‐threatening cardiac
complications. EDMD classically presents with muscle
weakness, early contractures, cardiac conduction
abnormalities and cardiomyopathy, although the presence
and severity of these manifestations vary by subtype and
individual

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CLINICAL PRESENTATION
• Clinically, the classic form of EDMD can be thought of as a triad within a triad.
The classic overall triad consists of early contractures, progressive muscle
weakness and atrophy, and cardiac abnormalities. The second triad captures
the pattern of contractures, most prominently involving neck extension,
elbow flexion, and heel cord tightening
• The contractures frequently emerge in the first decade of life, but become
more evident and bothersome during the growth spurt that often occurs in
adolescence. They can affect the paraspinal ligaments and posterior cervical
musculature so significantly that the patient's neck may become fixed in an
extended position. The cervical spine rigidity may become prominent enough
to alter neck anatomy, thereby leading to dysphagia.

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OCULOPHARYNGEAL MUSCULAR
DYSTROPHY
• Oculopharyngeal muscular dystrophy (OPMD) is a late-onset
muscle disease associated with progressive ptosis of the
eyelids and dysphagia, OPMD is usually transmitted as an
autosomal dominant trait.

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CLINICAL PRESENTATIONS
• OPMD usually manifests itself in the fifth or sixth decade by
eyelid ptosis and dysphagia. Later, all extraocular and other
voluntary muscles may become affected. In advanced
stages of the disease, the eyelids become very thin and
transparent. The forehead is permanently wrinkled, the
eyebrows are raised, and the supraorbital ridges appear
prominent.

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MEDICAL MANAGEMENT
• There is no cure for any form of muscular dystrophy.
• In DMD, corticosteroids, may slow muscle destruction.
• Gene transplantation researches are going on.

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REHABILITATION
• Exercise: Endurance exercises are performed with many
repetitions and minimal resistance to the point of muscle
fatigue. When signs of fatigue occur do not push to the point of
straining the supporting tissue
• Spinal brace is given to prevent scoliosis, a lumbar corset may
be given for treating lumbar lordosis, foot drop splint can be
given
• . Breathing Exercises: Breathing exercises are taught to the
patient, as in later stage the respiratory muscles might get
involved and lead to chest infections. This also increases vital
capacity and oxygenation.
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21. thank you