Myopathies are primary afflictions of muscles that are

genetically determined and may have hereditary

transmission.
No definite cause has been attributed to these diseases.
MUSCULAR DYSTROPHY
In this group of conditions muscles undergo progressive
degeneration and
the patient who has inherited this condition gets
progressively weaker without involvement of the nervous
system.
Muscular dystrophy is distinguished from other muscular
diseases by four obligatory criteria:
-It is a primary myopathy.
-There is a genetic basis for the disorder
-The course is progressive
-Degeneration and death of muscle fibers occur at some
stage of the disease.
In myopathies, there are pathological, biochemical or
electrical changes
characterized by involvement of proximal and larger
muscle groups, with
wasting and absence of deep tendon reflexes.
Muscles show fibrillation, are symmetrically involved, with
usually no involvement of the central and peripheral
nervous system.
The disease takes a down hill course and there is usually
no remission.
In muscular dystrophy, muscle wasting and weakness are
symmetrical, but
there is no fasciculation, tendon reflexes are preserved
until a late stage and
there is no sensory loss.
Some muscular dystrophies are severe at birth and
progress rapidly even unto death.
There are others which are very slow in their course lasting
sometimes several decades.
In some the disease does not manifest until late adult life
and may be compatible with normal longevity.
The differences between various muscular dystrophies are
made out
genetically rather than by clinical and histopathology
features
Classification
X LINKED RECESSIVE
Duchenne
Becker
Mc Leod's type
AUTOSOMAL RECESSIVE
Limb-girdle type
Childhood type
Congenital muscular dystrophy Occulopharyngeal
AUTOSOMAL DOMINANT
Facioscapulohumeral
Emery-Dreifuss

DUCHENNE MUSCULAR DYSTROPHY (DMD)

It is the most common, most studied and one of the most
severe of muscular dystrophies.
INCIDENCE:/30/1,00,000|live births.
PREVALENCE
Males are affected more than females who are carriers.
PATHOLOGY
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.
CLINICAL FEATURES
Children with DMD classically present with muscle
weakness by about 5 years of age.
They find it difficult to climb stairs, get up from squatting
and their
parents usually complain that they fall too often.
Motor milestones are occasionally delayed, especially
walking. The child may never ever run.
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 aa 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, ie. 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. The course
of Duchenne muscular dystrophy can be divided into 3
stages depending on the mobility and functional ability of
the patient. The stages are:
Ambulatory stage,
wheelchair dependent stage and
stage of confinement to bed.
Some children become wheelchair-bound by 9-10 years.
The progression often is:
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. It is pathetic to see the child deteriorate as his
age advances,
especially for the parents.
Considering the limited longevity it is the quality of life that
matters most. The child is fully aware of his deterioration
and often longs to play with his friends.
The disease is staged as follows:
Stage I ambulatory
Stage II ambulates but climbs stairs with support
Stage III can come to stand from sitting
Stage IV needs to be lifted to come to stand, but can walk
with support
Stage V is wheelchair independent
Stage VI is wheelchair dependent
Stage VIl confined to bed (independent)
Stage VIIl is confined to bed and dependent for all ADL's.
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
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
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.
Measurement of post-exercise CPKlevels increases the
sensitivity
of the test.
Other muscle enzymes like carbonic anhydrase IIl,
pyruvate kinase and lactate dehydrogenase are also
elevated.
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.
Genetic counseling: This obviously applies to having the
next child or
marriage counseling for carriers of the gene.
MEDICAL MANAGEMENT :-
Glucocorticoids 7mg /kg/day.
PHYSIOTHERAPY MANAGEMENT :-
IN AMBULATORY STAGE
AMBULATORY STAGE:
AIMS
To Improve normal ambulation
- Prevent tightness & contractures.
Encourage the Gover's sign.
Maintain / retain muscle power.
Maintain/ retain ROM
Balance training.
Bowel & bladder maintenance.
Genetic counseling to the parents.
Maximal prevention of wheel chair stage.
Improve ADL.
Avoid over eating / over protein diet.
MEANS
Early detection and management of contractures is the
single most
important step to keep the child walking and mobile
- Positions which encourage contracture formation are
avoided. Long leg
sitting and prone lying are encouraged to stretch the
hamstrings and
hip flexors Passive stretching daily
Standing and walking are functional stretchingexercises
Splinting, especially at night, to avoid contractures.
Supportive physical therapy, eg. endurance exercises,
respiratory muscle
strengthening exercise (chest phvsiotherapv) and
occupational therapy
Monitoring and prevention of cardiac complications
Psychological support to patient and his family.
WHEEL CHAIR DEPENDENT STAGE
WHEEL CHAIR STAGE
AIMS-
Prevent / delay of onset of scoliasis.
- Correction of scoliosis if present.
Prevent fractures
Prevent pressure sores over ischial tuberosity.
Prevent Obesity & contractures.
Wheel Chair modification.
Improve ADL.
MEANS
Respiratory management and training chest physiotherapy
-Management of acute episodes of respiratory
insufficiency, e-g. infections
-Breathing exercises and endurance training
- Assisted ventilation
.Upper limb weakness becomes incapacitating at this
stage. Weakness is
most severe proximally, and the child is taught various
methods to use
his upper limb. Mobile arm support, a forearm orthosis or
an overhead sling
suspension system can be used.
Training in ADL independence. Assistive devices like long-
handled combs,
reachers and spoons can be used. Toilet modifications are
required.
Prevention of scoliosis is critical to sitting balance and
comfort in the
wheelchair, and respiratory function. Early bracing spinal
orthosis] has
been reported to be useful, but patient compliance is poor,
especially in hot
weather. Wheelchair modifications like lateral trunk
supports, and custom-
made spinal support systems may have to be used.
Cardiac function monitor.
STAGE OF PROLONGED SURVIVAL( Bed Ridden)
BED-RIDDEN STAGE:
AIMS
Prevent bed sores
Chest Complications frequent turning
UTI [Urinary tract Infections]
DVT
MEANS
We can increase life span but cannot stop death.
The use of non-invasive respiratory muscle aids to assist
ventilation and
clear airway secretions is recommended.
Facilitation of ADL independence as far as possible
Communication aids wherever possible, eg personal
computer with voice
synthesizer, eye switch control.
PROGNOSIS:
We can increase life span but cannot stop death.
PHYSIOTHERAPY ASSESMENT:
I. SUBJECTIVE:
Name
Age
Sex
Chief Complaints :- In Ambulatory Stage
( From Parents)
Walks slowly
Falls frequently
Climbs stairs with difficulty
Cannot run
Difficulty to stand from sitting
In wheel chair stage
Unable to stand.
Body is deviated to one side.
Body weight increased/Obesitys
Bending of all joints & tightening.
- Frequent vomiting.
In bed ridden stage:-
-Unable to turn over the bed/ roll.
Unable to sit from lying.
Pt is fully dependent.
Uicers seen in heels etc.
History of illness:
- Onset
- Duration
Past medical history
Drug therapy
Any past Physiotherapy treatment taken
Any Surgical process.
Family history
Social history
Occupation of parents.
OBJECTIVE ASSESMENT
Vital signs: BP, TEMP, Pulse rate, Heart rate, Respiration
rate may/ may not be normal in wheel chair stage but in
bed
stage changes.
On Observation
1. In Ambulatory Stage
Body built
Attitude of the limbs
Any deformities
Posture
Gait pattern
2. In Wheel Chair Stage
Body built
Attitude of limbs.
Posture
3. Bed- Ridden Stage:
-Attitude of limbs
Any trophic ulcers/ Pressure sores.
Higher Functional Assesment:
Consciousness -Normal
Behavior- co-operative
Intelligence- 70-75%
Speech-Normal
Memory-Disturbed
Orientation-Normal
Calculation-Normal
Hallucination may be / may not be normal
Cranial Nerve Assessment:- Normal
Sensory Assessment - Normal / No sensory
Motor Assessment
Power -Increased
Tone-Increased
In ambulatory stage:
-Hypertrophy of calf muscle. M
- Hypotonia of shoulder.
By raising the child by his shoulder -axillary traction
In wheel chair stage:
Tightness of TFL, calf, hip flexors, knee flexor, plantar
flexor, wrist flexor, elbow flexor, inventors.
In bed stage:
wrist flexor, elbow flexor, inventors.
Severe contractures of all muscles & all flexors.
ROM
In ambulatory stage: Decreased in shoulder & elbow
Jt"ROM
Increase in knee & ankle Jt. (due to pseudo hypertrophy)
In wheel chair stage: Almost decreased in all Joints ( due
to tightness
weakness & contractures)
In bed ridden Stage:- Fully decreased in all Joints
Muscle Power:
Ambulatory Stage 3+& 4-
Wheel Chair Stage :Unable to assess due to tightness&
hypertrophy.
Bed ridden Stage : Cannot asses due to contractures&
deformities.

Reflexes
Hyporeflexia ( Except of ankle Jt)
DTR
Biceps
Triceps
Supinator
Knee
Ankle++
Superficial Reflexes : May / may not be present Stretch
reflex lost, efferent pathway lost.
Co ordination:
Cannot be assessed) due to muscle weakness tightness
contractures & deformities.
Balance Assessment:
Ambulatory Stage Static normal -sitting means they sit
stand means they sit.
Dynamic -(impaired/ abnormal.
Wheel Chair & bed ridden Stage
Abnormal štatiç &/dynamic balances.
Cannot assess in bed ridden stage
Posture Assesment
Ambulatory: Lumbar lordosis.
Wheel Chair Stage Scoliosis posture with lumbar lordosis;
foot
in plantar flexion.
Bed Stage
Gait Assessment:
Kypho Scoliosis.flexór contracture of all joint.
Problem List
Ambulatory Stage:
Due to presence of bilateral Gluteus medius weakness.
Step length
increased Cadence.
Stride length.
Swing phase shoulder back, abdominals pushed forward.
Waddling gait.
-Pelvic tilt abnormal.
Wheel Stage :
Obesity
Tightness & contractures of all flexors of U.L & L.E.
Unable to stand.
Lumbar lordosis & scoliotic posture.
Vomiting
Pressure sores
Mild dependence of ADL activities.
Bowel Constipation.
Bladder incontinence
Balance loss.
Respiratory Complications.
Bed Ridden Stage
Severe Contractures.
Bed rest Complications.
Bed Sores.
DVT.
Urinary incontinence.
Respiratory Problem.
Psychologically depressed.