Neuromuscu

lar Disease
in Pediatrics
 The motor unit consists of 4 parts:

• Motor neurons located in the brain stem or

anterior horn of the spinal cord

• Peripheral nerves formed by the axons of

Motor Unit these motor neurons together with other
axons

• Muscle-nerve junction

• All muscle fibers innervated by a single motor

neuron
07.11.2024 2
 • Diseases that occur as a result of disorders
What is
Neuromusc in the motor unit are called
ular neuromuscular diseases.
Disease? • These disorders can be stable and
unchanging (static), or can grow worse
over time (progressive).

07.11.2024 3
 • Some are genetic, some are not.

• Some are congenital, some are acquired later.

• Some are acute, some are chronic.

• Some are progressive, some are not.

Introducti • Definitive diagnosis is important, as some of them can be

on treated and intrauterine diagnosis is possible.

• Some of the genetic

-Deletion in nucleotide sequence

-Expansion in nucleotide sequence (nucleotide repeats)

-Autosomal dominant and recessive modes of inheritance

-It can be in the form of point mutations.

07.11.2024 4
 • Congenital neuromuscular disorders include:
Muscular dystrophy.

Myotonic dystrophy.
Introducti Spinal muscular atrophy.
on Peripheral neuropathies (such as Charcot-
Marie-Tooth disease).
Generalized muscle and nerve issues (such as
mitochondrial disorders).

07.11.2024 5
First Symptoms
• Retardation in motor development • Frequent falls
(inability to hold one's head, walking late,
• Gait disorders, inability or inability to
inability to walk, etc.)
run (toe tipping or shaky walking etc.)
• Laxity in muscles
• Don't get tired easily
• Increased or decreased movement in joints
• Deformities in the limbs (arms and
• Difficulty getting up from the floor and
legs) and spine
going up and down stairs

07.11.2024 6
07.11.2024 PT, MSc Görkem ATA 7
• Mostly proximal muscles affected in the
primary muscle disease and lower
extremities more affected than the upper.

• Decrease the deep tendon reflexes

07.11.2024 8
 • Patients with NM diseases usually show
complaints that occur due to weakness in
active muscles, such as climbing hills and
WEAKNESS stairs, getting up from sitting, walking,
raising their arms and washing their head,
taking something from the shelf.

07.11.2024 9
 • The fatigue that develops in the muscle
EXERCISE performing that movement by performing
INTOLERA
NCE a certain movement and is to the extent
that it should not normally be called
exercise intolerance.

07.11.2024 10
 • Atrophy in muscle diseases develops much
Atrophy later than in peripheral nerve diseases.

07.11.2024 11
 • Hypertrophy in muscle fibers that have
not yet been lost due to disease is
accompanied by an increase in connective
Pseudohypert and adipose tissue, and therefore muscle
rophy mass increases. It is most common in the
gastrocnemius-soleus muscle group of the
calf, sometimes in the quadriceps muscle.

07.11.2024 12
Evaluation of neuromuscular
diseases with tests
• Creatine phosphokinase (CPK): In serum

• Muscle biopsy: It is the method that provides the most important and
specific information in neuromuscular diseases. While providing
important clues in the differentiation of neurogenic and myopathic
problems, it also provides specific information in determining the
types of myopathies. The lateral vastus of the quadriceps femoris is
the most suitable biopsy site.

• Electromyography (EMG)
07.11.2024 13
Classification

07.11.2024 14
 • Spinal Muscular
Motor
Atrophy
Neuron
Diseases • Spinal Bulbar Muscular
Atrophy

• Amytrophic Lateral
Sclerosis

• Poliomyelitis

07.11.2024 15
Spinal Muscular Atrophy
• Autosomal recessive
• Anterior horn cells degeneration or bulbar nucleus degeneration
• No sensory impairment
• Pyramidal way is not held
• Three types by age of onset
1. Acute infantile form (Werdning-hoffman Dis.)
2.Chronic infantile form
3. Juvenile type (Kugelberg-Walender Dis.)

07.11.2024 16
 • -Occurs within the first 6 months, autosomal recessive

• It progress fast

• 95% is lost within 2 years of age.

SMA Type
1 Werdnig • Diffuse hypotonia

Hoffmann • Lower extremity is affected heavier than upper

Disease extremity.

• Arms and legs are paralytic.

• Movement is limited to fingers and wrists.

• Tongue atrophy, fasciculation

• Deep tendon reflexes are lost, there is no sensory

defect. 07.11.2024 17
 • Clinically, it is the most severe and common form

SMA Type of the disease.

1 Werdnig • Clinically, lack of head stability, they never

Hoffmann capable of sitting without support.
Disease • Chewing, swalloving type activities is hard for
SMA patients.

• They have difficulty coughing and secretion due

to pulmonary muscles effect.

07.11.2024 18
 • -No symptoms in the first 6 months (3
months-4 years)

• Inability to stand after this period

SMA Type • Moderate difficulty breathing

2 • Tongue atrophy and fasciculation

• Disease-Specific hand tremor

• Can live up to 30 years

• Treatment: Physiotherapy
07.11.2024 19
 Type 3 • It is a lighter form among SMAs.

Kugelberg • In this form, patients can able to walk

- independantly.
Walender • At the age of 20-30, they can lose their
Disease ambulation abilities.

• The patients that losing ambulation ability may

develop scoliosis and they have osteoporosis and
obesity due to lack of movement.

07.11.2024 20
Signs in SMA
1.Creatine phosphakinase: infantile form normal, high in others

2.EMG: Neuron transmission speed is normal

3. Muscle biopsy: Atrophic hyperatrophic muscle fibers

07.11.2024 21
 Charcot- • It is the most common of the hereditary motor-sensory
Marie neuropathies.

Tooth • It shows autosomal dominant inheritance.

(Peroneal • Although they spend their infancy normally, in the

Muscular following years, with complaints such as falling frequently,

Atrophy) tripping their feet, and clumsiness, deterioration in walking

begins to occur.

• Peroneal and tibial nerve involvement is most common. For

this reason, due to the weakening of the muscles located
below the knee and in the front, that leg becomes thinner.

• It looks like a stork's leg.

07.11.2024 22
 Charcot- • As muscle atrophy progresses, the dorsiflexion ability of the

Marie foot begins to disappear, resulting in a drop foot condition.

Tooth • Walking is impaired due to drop foot.

(Peroneal • As a result of atrophy of the muscles in the foot structure,

Muscular pes cavus develops.

Atrophy) • DTRs are lost in the distal regions.

• Nerves may enlarge to be palpable.

• Although the involvement of the muscles in the upper

extremities is not as severe as the lower extremities,
contractures in the wrists and claw-hand appearance occur
in the fingers in advanced cases.
07.11.2024 23
07.11.2024 24
 Charcot- • As a result of the myelin layer of nerve fibers
Marie being affected
Tooth • Proprioceptive sense and vibration sense are
(Peroneal impaired.
Muscular
• The threshold for pain and temperature rises.
Atrophy)
• There is a burning and tingling sensation in the
feet.

• Motor and sensory nerve conduction velocity

was considerably slowed down.

07.11.2024 25
 • Guillain Barre Syndrome is an immunopathy that
GUILLAIN- classically starts acutely with paresthesia and
BARRE weakness, progresses rapidly in most patients,
SYNDROM and progresses to being bedridden or ventilator
E dependent, depending on the degree of damage.

• 10% of the cases die, 20% of them have

ambulation disorder.

07.11.2024 26
 • In all age groups, it is more common in males as

GUILLAIN- gender, Guillain Barre Syndrome has an acute

BARRE onset.

SYNDROM • Acute onset can make a normal person

E bedridden or ventilator dependent for 2-3 days.

• 40-50% of patients have a history of influenza-like

upper respiratory tract infection 2-4 weeks
before the onset of weakness.

07.11.2024 27
Symptoms
• Paresthesia begins in the toes.
• This is followed by loss or reduction of DTR, which may be
symmetrical weakness that develops over several days.
• Weakness causes difficulty in walking and climbing stairs,
• Paresthesia and weakness spread proximally to the arm, face, and
oropharynx.

07.11.2024 28
 • Limb-girdle muscular
• Congenital MD
Muscular dystrophy
Dystrophy • Duchenne MD
• Oculopharyngeal
• Becker MD
muscular dystrophy
• Myotonic dystrophy (OPMD)

• Facioscapulohumeral • Distal muscular

(FSHD) dystrophy

• Emery-Dreifuss
muscular dystrophy
07.11.2024 29
07.11.2024 30
Duchenne Muscular Dystrophy
(DMD)
• DMD is a genetic disorder
characterized by progressive
muscle degeneration and weakness
due to the alterations of a protein
called dystrophin that helps keep
muscle cells intact.

07.11.2024 31
Duchenne Muscular Dystrophy
(DMD)

07.11.2024 32
Duchenne Muscular Dystrophy
(DMD)
Govers Sign

07.11.2024 33
PT, MSc Görkem ATA

• People with DMD typically require a

Duchenne wheelchair before their teenage years.

Muscular The life expectancy for those with this

Dystrophy disease is late teens or 20s.
(DMD) • The majority of individuals affected are
boys. It’s rare for girls to develop it. The
symptoms include:

07.11.2024 34
 Duchenne • Trouble walking • Scoliosis
Muscular
Dystrophy • Loss of reflexes • Mild intellectual
(DMD) • Difficulty standing up impairment

• Poor posture • Breathing difficulties

• Bone thinning • Swallowing problems

• Pseudohypertrophy • Lung and heart

weakness

07.11.2024 35
07.11.2024 36
PT, MSc Görkem ATA

• The disease occurs when this protein is shorter

than normal due to a defect in the gene that
Becker
programs the muscle protein Dystrophin.
Muscular
Dystrophy • Becker muscular dystrophy is similar to Duchenne

(BMD) muscular dystrophy, but it’s less severe.

• This type of muscular dystrophy also more

commonly affects boys. Muscle weakness occurs
mostly in patient’s arms and legs, with symptoms
appearing between age 11 and 25

07.11.2024 37
Becker Muscular Dystrophy
(BMD)
• Other symptoms of Becker
muscular dystrophy include:
Walking on your toes

Frequent falls

Muscle cramps

Trouble getting up from the floor.

07.11.2024 38
PT, MSc Görkem ATA

• Many with this disease don’t need a

Becker
Muscular wheelchair until they’re in their mid-30s
Dystrophy or older, and a small percentage of people
(BMD) with this disease never require one.

• Most people with BMD live until middle

age or later.

07.11.2024 39
 • FSHD is also known as
• Difficulty chewing or
Landouzy-Dejerine
disease.
swallowing

• This type of muscular • Slanted shoulders

Facioscapu dystrophy affects the • A crooked
lohumeral
muscles in your face,
Dystrophy appearance of the
(FSHD) shoulders, and upper
mouth
arms.

• FSHD may cause: • A winging scapula

07.11.2024 40
Facioscapulohumeral Dystrophy
(FSHD)
• A smaller number of people with FSHD
may develop hearing and respiratory
problems.

• FSHD tends to progress slowly.

• Symptoms usually appear during patient’s

teenage years, but they sometimes don’t
appear until 40s. Most people with this
condition live a full life span.
07.11.2024 41
Facioscapulohumeral Dystrophy
(FSHD)

07.11.2024 42
Facioscapulohumeral Dystrophy
(FSHD)

07.11.2024 43
 • History

• Motor Development Tests

Evaluation • Functional Status (Brooke and Vignos Classification)

and • ROM

Assessmen • Posture Analysis

t • Shortness Tests

• Muscle Test (Manual and Myometer)

• Anthropometric and Chest Circumference Measurements

• Pulmonary Function Tests (VC, FEV etc.)

• Performance Tests (such as gowers time, 6m walking, paper cutting)

• Device Evaluation
07.11.2024 44
Motor Function Measurement (MFM)

07.11.2024 45
Neuromusc • Clinical examinations can also lead to diagnosis.
ular • Early treatment can also help prevent some
Disorders secondary effects of the conditions.
Diagnosis
• Although most neuromuscular disorders can’t be
and
Treatment cured, proper treatment can lower the intensity
and slow the progression of its symptoms.

• We design treatments to maximize function,

increase independence, and improve the quality
of patient’s life.

07.11.2024 46
 Treatment • Adaptive tecnology • Physiotherapy
Modalities
devices • Occuational therapy
• Aquatic therapy • Speech and language
• Augmentative therapy
communication devices

• Bracing and orthoses

07.11.2024 47
 • Physiotherapy using for:
Reduce contractures
Physiothe Improve daily living activity
rapy Preventing scoliosis
Enhances gait ability
Improve pulmonary capacity.

07.11.2024 48
 • Cycling, swimming and walking activities
are for improving aerobic capacity.
Physiothe • Breathing exercises.
rapy
• Stretching exercise is important espacially
for ankle plantar flexors and knee and hip
flexor muscles for preventing gait ability.

07.11.2024 49
 • Night time splints are using for preventing or
decreasing the deformities.

• The middle term exercises (in childhood) active

Physiothe assistif ROM and manual stretching exercise are
rapy recommended.

• Late ambulation or early non-ambulation term

KAFO is recommended for standing or
maintaning restricted ambulation.

07.11.2024 50
 • In addition, parapodium devices are using
for keeping upright position.

• In the childhood term choosing proper

Physiothe
rapy wheelchair is important for preventing
scoliosis and secondary symptoms.

• If patient has scoliosis must wear a

scoliosis orthesis.

07.11.2024 51
 • Strenghtening exercises are using for upper
extremity.

• Abdominal muscle weakness can cause

insufficent coughfing so we have to focus
Physiothe
abdominal muscle weakness.
rapy
• Recent studies shown that the most
recommended exercies are aerobics,
strenghtening and breathing exercises in
neuromuscular disease.

07.11.2024 52
 • The other strenghtening tecnique is
electrotherapy. Faradic current can cause pain
and discomfort.

Physiothe • TENS, FES and biofeedback are proper for these

rapy patients.

• FES can exacerbate the fatique therefore be

careful for applying FES.

• Autogenic Drenaige

07.11.2024 53