Weakness vs

hypotonia

Flaccid paralysis

Floppy child

Dr.Mahmoud Aboud Elsawy.

Master student.
1
TABLE OF CONTENTS
01 Introduction

02 Weakness vs hypotonia

03 UMNL VS LMNL

Some central disorders:

04 SMA as example

05 Some peripheral disorders :

GBS, Myasthenia Gravis And
muscular dystrophy

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INTRODUCTION

Motor disorders
In clinical practice the first question to
ask when seeing a child with a motor
disorder is whether this is a central or
a peripheral nervous system disorder.
The pattern of movement usually
gives the answer.

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 Weakness and Hypotonia

❑ Weakness is a decreased ability to voluntarily

move muscles. This may be generalized or
localized to one aspect of the body.
❑ Hypotonia is a state of low muscle resistance
to movement. Hypotonia can be associated
with weakness, but in some cases is present
with normal motor strength. The differential
diagnosis for weakness is extensive.
ETIOLOGY
❖ Weakness and hypotonia may be due to disorders of
upper or lower motor neurons.
❖ Upper motor neurons originate in the cerebral motor
cortex; their axons form the corticospinal tract
ending in the spinal cord, controlling voluntary motor
activity.
❖ The anterior horn cells, their motor roots, peripheral
motor nerves, neuromuscular junctions, and muscles
represent the lower motor neurons and muscle units.
❖ Maintenance of normal strength, tone, and
coordination requires integrated communication
throughout this complex system, including the
cerebral cortex, cerebellum, brainstem, thalamus,
basal ganglia, and spinal cord.

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CLINICAL Weakness caused by upper motor neuron disease differs
MANIFESTATIONS from weakness produced by lower motor units.

UMNL LMNL
• Dysfunction causes loss of voluntary control, but not total • Destruction of the lower motor neuron, the
loss of movement because motor nuclei of the basal final common pathway producing muscle
ganglia, thalamus, and brainstem have tracts that produce activity, leads to hypotonia and absence of
simple or complex stereotyped patterns of movement. movement.
• The corticospinal tract permits fine motor activity and is • Function is best tested by measuring the
best tested by fine movements of the distal extremities. strength of individual muscle groups or, in a
• In the acute phase, UMN disorders cause hypotonia and young child, by observing the ability to
decreased deep tendon reflexes. Over time, however, perform functional tasks requiring particular
spasticity and hyperreflexia develop. muscle groups (walk up or down stairs, arise
• A central lesion usually results in weakness that is more from the ground, walk on toes or heels, raise
pronounced in the flexors of the lower extremities. In the the hands above the head, squeeze a ball).
upper extremities, the extensors are weaker than flexors, • With lower motor neuron disorders, atrophy
• Damage to the spinal cord leaves residual simple, and fasciculations are common and deep
stereotyped reflex movements coordinated by local spinal tendon reflexes are typically decreased or
reflexes below the level of the lesion. absent.

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 The distribution of weakness depends on the location of the lesion.
A tumor in the left frontal region may produce a right hemiparesis.
UMNL A brainstem glioma may produce a slowly progressive quadriparesis.

❑ Acute disseminated encephalomyelitis ❑ Acute spinal cord lesions, such as infarction or compression,
(ADEM) is an acute, inflammatory may produce a flaccid, areflexic paralysis that mimics lower
demyelinating disorder that may affect motor neuron disease. The hallmarks of spinal cord disease are
infants and children after a febrile a sensory level and a motor level of impairment, disturbance of
illness. Children may present with a bowel and bladder function, and local spinal pain or tenderness.
variety of symptoms and signs including Patients may be bradycardic and hypotensive due to neurogenic
monocular vision loss (e.g., acute optic shock. A child who exhibits an acute or subacute flaccid
neuritis), hemiparesis, ataxia, seizures, paraparesis is most likely to have an acute cord syndrome or
headache, weakness, or dysphagia. Guillain-Barré syndrome. Acute cord syndrome may be due to a
❑ The pathophysiology resembles that of spinal cord injury causing compression, contusion or shear injury
multiple sclerosis, except children with to the cord, ischemia, tumors (e.g., neuroblastoma, lymphoma,
ADEM have encephalopathy. Although sarcoma), or space-occupying infections such as epidural
multiple sclerosis is most commonly abscesses. In addition to neurologic deficits, patients with
diagnosed in adulthood, childhood cases epidural abscesses often have fever and spinal pain.
have been increasingly recognized. ADEM Compression of the cord may require immediate neurosurgical
and multiple sclerosis exacerbations are management to preserve vital function.
treated with high-dose steroids. Physical ❑ Another cause of weakness localized to the spine is transverse
and occupational therapies are often myelitis, an acute postinfectious demyelinating disorder of the
helpful. spinal cord, which is treated with high-dose steroids.
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 Central Disorders Causing Weakness in Infants and Children

ANATOMIC CORRESPONDING DISORDERS

REGION

Central o Brain tumor o inborn error of metabolism;

nervous o Trauma (accidental, o mitochondrial encephalomyopathy,
system—brain nonaccidental)
THANKS
o Infection (meningitis, encephalitis,
o abscess, congenital infection)
o Ischemia (arterial or venous)
o lactic acidosis, and stroke like
episodes)
o Degenerative disease
o Hemiplegic migraine
o Hemorrhage o Toxins
o Demyelinating disease o Electrolyte disorders
o Metabolic disease o Functional neurologic symptom
(leukodystrophy; o disorder (conversion disorder)

Central nervous ✓ Transverse myelitis ✓ Infarction

system—spinal ✓ Tumor ✓ Myelomeningocele
cord ✓ Abscess ✓ Tethered cord
✓ Trauma

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Peripheral Disorders Causing
Weakness in Infants and Children

Anterior Neuromuscular
Peripheral
horn cell nerve
junction muscle

➢ Myasthenia gravis (juvenile,

❑ Spinal muscular transientneonatal,
atrophy congenital)
❑ Poliomyelitis ➢ Botulism
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 DISEASES OF THE LOWER MOTOR NEURON
LMNL Neuromuscular disease affects component(s) of the lower motor
neuron unit. The distribution of muscle weakness can point toward
specific diseases.

01 Spinal Muscular Atrophy

• Progressive degeneration of anterior horn cells
is the key manifestation of spinal muscular
atrophy (SMA), a genetic disease with signs
and symptoms that may begin in intrauterine
life or any time thereafter.
o About 55% of patients have a severe infantile
form (SMA type 1/Werdnig-Hoffmann
disease),
o 30% have a late infantile and more slowly
progressive form (SMA type 2/Kugelberg-
Welander syndrome),
o and 20% have a more chronic, juvenile form
(SMA type 3).
• SMA is one of the most frequent autosomal
recessive diseases, with a carrier frequency of
1 in 50.
 Spinal Muscular Atrophy
LMNL • Clinical Manifestations ❑ Laboratory and Diagnostic
• The earlier in life the signs develop, the more Studies
severe the progression. ❑ The diagnosis of SMA is made by

01
genetic testing.
• Infants with SMA type 1 present in early
❑ Creatine phosphokinase (CK) may be
infancy with severe hypotonia, generalized normal or mildly elevated.
weakness, and facial involvement. ❑ Although not currently used to
• Infants have normal cognitive, social, and diagnose SMA, muscle biopsy
language skills and sensation. specimens show grouped atrophy, and
• Fasciculations are best identified by inspecting electromyogram shows fasciculations,
fibrillations, and denervation.
the tongue when the child is asleep.
❑ SMA was added to the Recommended
• Deep tendon reflexes are absent. With disease Uniform Screening Panel in 2018.
progression, breathing patterns change.
• Weak intercostal muscles and a relatively
stronger diaphragm result in a collapsed chest
wall (bell-shaped chest) and prominent
abdominal movements with rapid, shallow
breathing.
• In an extremely weak child, respiratory
compromise leads to atelectasis, pulmonary
infection, and death.
 Acute Flaccid Myelitis
LMNL • A more recently described cause of weakness is acute
flaccid myelitis, a flaccid weakness with gray matter
involvement of the spine, sometimes with cranial nerve

02 •

•
impairment.
Although not definitive, recent cases of acute flaccid
myelitis have been temporally related to enteroviral
infections.
Lesions of the spinal cord are best delineated with magnetic
resonance imaging (MRI).

03 Peripheral Neuropathy
• There are many peripheral nerve diseases in childhood, but
the most classic presentations are:
• Guillain-Barré syndrome,
• chronic inflammatory demyelinating polyneuropathy (CIDP),
• hereditary motor sensory neuropathy (HMSN),
• and tick paralysis.
• Peripheral neuropathies due to diabetes mellitus,
alcoholism, chronic renal failure, exposure to toxins,
vasculitis, and neoplasm are common in adults but rare in
children.
 ❑ Guillain-Barré Syndrome
LMNL an immune-mediated, heterogeneous peripheral neuropathy syndrome
with several variants, the most common being acute inflammatory

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demyelinating polyradiculoneuropathy (AIDP).
AIPD classically occurs about 10 days after a respiratory or
gastrointestinal infection (e.g., Mycoplasma pneumoniae or
Campylobacter jejuni).
It is the most common cause of acute flaccid paralysis in children.
A cranial nerve variant of GBS called the Miller Fisher variant manifests
with ataxia, partial ophthalmoplegia, and areflexia.

The characteristic symptoms of AIDP are areflexia, flaccidity, and

symmetric ascending weakness.
Progression can occur rapidly, in hours, or more indolently over
weeks.
Typically, symptoms start with numbness or paresthesia in the
hands and feet, then a heavy, weak feeling in the legs.
Weakness ascends to involve the arms, trunk, and bulbar muscles
(tongue, pharynx, larynx).
 ❑ Guillain-Barré Syndrome
LMNL Deep tendon reflexes are absent even when strength is relatively
preserved.

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Objective signs of sensory loss are usually minor compared with the
dramatic weakness, but many patients experience pain.
Bulbar and respiratory insufficiency may progress rapidly.
Dysfunction of autonomic nerves can lead to blood pressure changes,
tachycardia and other arrhythmias, urinary retention or incontinence, or
stool retention.
This polyneuropathy can be difficult to distinguish from an acute spinal
cord syndrome.

Loss of arm reflexes, absence of a sensory level, and lack of spinal

tenderness point toward Guillain-Barré syndrome.
The cerebrospinal fluid in Guillain-Barré syndrome is sometimes
normal early in the illness but classically shows elevated protein
levels without significant pleocytosis (albuminocytologic dissociation).
MRI with gadolinium may reveal enhancement of the spinal nerve
roots.
Electromyography (EMG) and nerve conduction velocity are not
always required but can provide corroborative diagnostic evidence
and prognostic indicators.
 ❑ Guillain-Barré Syndrome
LMNL Children in early stages of the disease should be
admitted to the hospital to monitor pulmonary and

00
cardiac functions.
Those with moderate, severe, or rapidly progressive
weakness should be treated in an intensive care unit.
Endotracheal intubation is required by patients with
impending respiratory failure or an inability to clear
secretions.

Most patients are treated initially with intravenous

immunoglobulin (IVIG). Plasma exchange is an alternative
option.
Physical, occupational, and speech therapies are mainstays
of treatment.
The illness usually resolves spontaneously, albeit slowly;
80% of patients recover normal function within 1–12
months.
Twenty percent of patients are left with mild to moderate
residual weakness.
❑ Chronic Inflammatory Demyelinating Polyneuropathy CIDP

❑ A small minority of patients who initially present with

Guillain-Barré syndrome will have a relapsing course and will
ultimately be diagnosed with CIDP.
❑ CIDP is an immune-mediated peripheral neuropathy typically
presenting as both proximal and distal weakness in an
episodic, relapsing-remitting pattern.
❑ Patients may also experience sensation changes such as
numbness, tingling, or pain.
❑ The diagnosis is clinical, although EMG or nerve biopsy may
confirm the diagnosis.
❑ The mainstays of treatment for CIDP are IVIG,
glucocorticoids, and plasmapheresis.

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 ❑ Hereditary Motor Sensory Neuropathy

• HMSN (also called Charcot-Marie-Tooth disease [CMT]) is a group of inherited,

progressive, distal peripheral nerve diseases.
• Motor components generally dominate the clinical picture, with sensation and
autonomic functions affected later.
• Some subtypes present with severe symptoms starting in infancy, while other forms may
have milder symptoms.
• Most often, complaints begin in the preschool to early adolescent years, with weakness
of the ankles and frequent tripping.
• Examination shows pes cavus deformity of the feet (high-arched feet), bilateral weakness
of foot dorsiflexors, and normal sensation despite occasional complaints of paresthesia.
• Progression of HMSN is slow, extending over years and decades. Eventually, patients may
develop weakness and atrophy of the entire lower legs and hands with mild to moderate
sensory loss in the hands and feet.
• There is variability of severity between types of HMSN and even within families affected
by the same type.

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• Some patients never have more than a mild foot deformity, loss of ankle
reflexes, and electrophysiologic abnormalities.
• Others in the same family may be confined to a wheelchair and have
difficulties performing everyday tasks with the hands.
• HMSN can be characterized by demyelination (e.g., CMT1) or axonal (e.g.,
CMT2) damage. Specific genetic testing is available for many subtypes of
HMSN. Specific treatment for HMSN is not available, but braces that maintain
the feet in dorsiflexion can maintain function and reduce the risk of injury..
❑ Tick Paralysis
• Tick paralysis produces an acute lower motor neuron pattern of
weakness, clinically similar to Guillain-Barré syndrome.
• An attached female tick releases a toxin, similar to botulism,
blocking neuromuscular transmission.
• Affected patients present with a severe generalized flaccid
weakness, including ocular, papillary, and bulbar paralysis.
• A methodic search for an affixed tick, particularly in hairy areas,
must be made in any child with acute weakness.
• Removal of the tick results in a prompt return of motor function.
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 Topography of Neuromuscular Diseases

LOCATION SYNDROMES/DISORDERS
CLINICAL
Proximal muscle ❑ Muscular dystrophy (Duchenne/Becker/limb-girdle)
weakness ❑ Spinal muscular atrophy
❑ Myopathies/dermatomyositis/polymyositis

Distal limb ❑ Polyneuropathy (GBS) ❑ Myotonic dystrophy

weakness ❑ Hereditary motor sensory neuropathy ❑ Distal myopathy

Ophthalmoplegia ❑ Myasthenia gravis ❑ Congenital myotubular myopathy

and limb weakness ❑ Botulism ❑ Miller Fisher variant of GBS.
❑ Myotonic dystrophy
Facial and bulbar ❑ Myasthenia gravis ❑ Myotonic dystrophy
weakness ❑ Botulism ❑ Congenital myopathy
❑ Polio ❑ Facioscapulohumeral dystrophy
❑ Miller Fisher variant of GBS.

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Myasthenia Gravis • transient neonatal myasthenia
seen after birth, and

o There are different conditions

called myasthenia. Each has a
different mechanism. These
include
• juvenile myasthenia gravis seen
in late infancy and childhood,

• congenital myasthenic
syndrome seen in infancy
through childhood.

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Juvenile Myasthenia ❑ Juvenile myasthenia gravis is an autoimmune condition.
❑ Most commonly, antibodies block the acetylcholine receptors (AChR) at the
neuromuscular junction, decreasing the number of effective receptors, which
results in rapid fatigability of striated muscle; other types of autoantibodies exist.
❑ The cardinal feature of myasthenia gravis is fluctuating skeletal muscle weakness.
❑ Rapid fatigue of muscles distinguishes myasthenia from other neuromuscular
disorders, with progressive worsening over the day or with repetitive activity and
improvement after rest.
❑ Although myasthenia can produce weakness in any muscle group, variable ptosis,
diplopia, ophthalmoplegia, and facial weakness are typical presenting symptoms.
❑ There can be any degree of involvement.
❑ In some children, the disease never advances beyond ophthalmoplegia and ptosis
(ocular myasthenia).
❑ Others may have a progressive and potentially life-threatening illness that involves
all musculature, including that of respiration and swallowing.
❑ Treatment includes pyridostigmine (an acetylcholinesterase inhibitor) and,
depending on severity, various forms of immunosuppression.

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transient myasthenic
syndrome ❑ Transient Neonatal Myasthenia Gravis
❑ A transient myasthenic syndrome develops in the first hours to
days after birth in neonates born to mothers with myasthenia
gravis related to maternal anti-AChR antibodies.
❑ Almost all infants born to mothers with myasthenia have
maternal anti-AChR antibodies, but only 10–20% will develop
signs.
❑ Signs include weak facial movements, poor feeding, hypotonia,
respiratory difficulty, and variable extremity weakness; ptosis
and ophthalmoplegia can also occur but are less common.
❑ Neonates with transient myasthenia gravis require
cholinesterase inhibitors and supportive care for a few days to
weeks until the weakness remits.

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Congenital Myasthenic
Syndromes ❑ A variety of rare disorders of the neuromuscular junction have
been reported that are not autoimmune mediated.
❑ The congenital myasthenic syndromes (CMS) are due to gene
mutations in the components of the neuromuscular junction.
❑ They typically present in infancy with ptosis, facial diplegia,
hypotonia, extremity weakness, and sometimes
ophthalmoplegia, although symptoms can present throughout
childhood.
❑ Respiratory function and feeding may be compromised.
❑ Children with CMS usually have lifelong disability.
❑ Treatment of CMS depends on the type; some types can respond
to pyridostigmine or other drugs that improve neuromuscular
junction function, other types can be exacerbated by
pyridostigmine.

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Diagnostic Studies ❑ Autoimmune myasthenia is most commonly diagnosed through
the combination of clinical symptoms and antibody testing.
❑ The majority of individuals have antibodies to the AChR,
although some have antibodies to other components of the
neuromuscular junction.
❑ Nerve conduction studies classically reveal an electrodecrement
with 3-Hz repetitive stimulation.
❑ An ice pack test (applying an ice pack to a closed eyelid) may
lead to transient improvement in ptosis, but this can be difficult
to interpret.
❑ Historically, a Tensilon test (administration of edrophonium
chloride) was used to evaluate for transient improvement in
strength and ptosis and clarify the diagnosis. Currently, it is not
frequently used due to concern for safety.

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 ❑ Infant botulism results from intestinal infection by Clostridium botulinum, which
• Infant Botulism produces a neurotoxin that blocks presynaptic cholinergic transmission.
❑ Young age and the absence of competitive bowel flora predispose infants to this
disease.
❑ Infants may ingest dust, soil, or food (e.g., honey, poorly canned foods)
contaminated with spores.
❑ The progressive neuromuscular blockade ranges from mild to severe.
❑ Infants typically present with constipation and poor feeding.
❑ Hypotonia and weakness develop progressively, along with cranial nerve
dysfunction manifested by decreased gag reflex, diminished eye movements,
decreased pupillary contraction, and ptosis.
❑ Autonomic dysfunction can result in fluctuations in heart rate and blood pressure.
❑ Severely affected infants may develop respiratory failure. The diagnosis is made by
detecting C. botulinum spores and toxin in stool samples.
❑ Therapy with botulism immune globulin should be administered as soon as the
diagnosis is suspected.
❑ With prompt treatment and respiratory and supportive care, the prognosis is
good.

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Muscular Dystrophy

❑ Muscular dystrophies are a group of genetic muscle

diseases characterized by progressive myofiber
degeneration and the gradual replacement of muscle by
fibrotic tissue.
❑ Duchenne muscular dystrophy (DMD) is an X-linked
disorder (Xp21) that arises from a mutation in the
dystrophin gene.
❑ It is the most common muscular dystrophy;
approximately 1 in 3,500 boys is affected.
❑ Becker muscular dystrophy also involves the dystrophin
gene but is associated with more mild symptoms due to
a semifunctional dystrophin protein.

2
6
Muscular Dystrophy
Clinical Manifestations

❑ Typically, at about 2–3 years of age, boys with DMD develop an

awkward gait and an inability to run properly.
❑ Some have an antecedent history of mild delay in attaining motor
milestones or poor head control during infancy.
❑ Examination shows firm pseudohypertrophy of the calves and mild
to moderate proximal leg weakness with a hyperlordotic, waddling
gait.
❑ The child typically arises from a lying position on the floor by using
the arms to climb up the legs and body (Gower sign).
❑ By 12 years of age, most boys are not walking and use a wheelchair
full time.
❑ Other manifestations include cardiomyopathy, scoliosis, respiratory
decline, and variable cognitive and behavioral dysfunction.
❑ In the past, most with DMD died in their 20 s or early 30 s, usually as
a result of progressive respiratory decline or cardiac dysfunction; life
expectancy may increase with newer therapies.

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Muscular Dystrophy
Diagnosis & treatment
❑ Serum CK levels are always markedly elevated. Diagnosis is
established by genetic testing for the dystrophin gene mutation.
❑ Approximately one third of cases represent sporadic mutations.
Prenatal genetic testing is possible, and newborn screening for
elevated CK is available in some states.
❑ Treatment
❑ chronic oral steroid therapy delays the motor disability and
improves longevity by preventing cardiac and pulmonary
decline, even after a boy stops ambulating.
❑ Supportive care includes physical therapy, bracing, proper
wheelchairs, and treatment of cardiac dysfunction or pulmonary
infections.
❑ Several exon-skipping medications are Food and Drug
Administration approved.
❑ They are indicated for use with specific dystrophin mutations.

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❑Etiology and Epidemiology ✓ Not only is the striated muscle affected, but
❑ Myotonic dystrophy (DM) is the second smooth muscle of the alimentary tract and cardiac
most common muscular dystrophy and the muscle are involved.
most common form to present in ✓ Patients have variable arrhythmias,
adulthood. endocrinopathies, immunologic deficiencies, and
❑ An autosomal dominant disease, DM is cataracts.
caused by progressive expansion of a triplet ✓ Most patients with DM have intellectual
repeat, CTG, in the DM protein kinase gene. disability, and those with congenital DM are more
❑ Presentation is roughly correlated with the severely impacted.
number of CTG repeats, and the disease is ✓ A severe congenital form of DM can appear in
characterized by genetic anticipation in infants of mothers with DM because of rapid
which each generation presents with earlier Myotonic Dystrophy expansion of the CTG repeat length.
and more severe symptoms.

Clinical Manifestations • Infants are immobile and hypotonic, with ptosis, absence of
Although DM most typically presents in adulthood, it can sucking and Moro reflexes, poor feeding, and respiratory
present at any age. difficulties.
Clinical features of childhood-onset “classic” DM include • Often, weakness and atony of uterine smooth muscle
slowly progressive facial and distal extremity weakness as during labor lead to associated hypoxic ischemic
well as myotonia. encephalopathy and its sequelae, which make the clinical
When patients grasp onto an object, they have difficulty diagnosis more difficult.
releasing their grasp and may appear to peel their fingers • The presence of congenital contractures, clubfoot, or a
away slowly. history of poor fetal movements indicates intrauterine
The facial appearance is characteristic, with hollowing of neuromuscular disease.
muscles around temples, jaw, and neck; ptosis; facial • Individuals with congenital DM often make significant gains
weakness; and drooping of the lower lip. 29
in terms of motor skills, and nearly all children eventually
ambulate independently.
❑Congenital muscular dystrophies ✓ limb-girdle muscular dystrophy (LGMD)
(CMDs) ✓ Several forms have been described.
❑refer to a group of genetically ✓ The majority are inherited in an AR pattern, but
determined conditions that present in AD forms exist as well.
infancy or early childhood. ✓ Depending on the subtype of LGMD, presentation
can be throughout childhood.
❑The most common subtypes include
✓ LGMD primarily affects muscles of the hip and
merosin-deficient CMD, Ullrich CMD, shoulder girdles.
and the dystroglycanopathies. Other Forms of ✓ Distal muscles may later become weak and
❑The characteristic clinical features Childhood Muscle atrophic; some forms are more likely to have
include hypotonia, extremity progressive cardiac and respiratory failure.
Disease
weakness, delayed motor
development, and congenital
❖Emery-Dreifuss muscular dystrophy (EDMD),
contractures. ❖ also known as humeroperoneal muscular dystrophy,
❑Contractures and scoliosis are often typically begins in childhood.
progressive and severely worsen; ❖ Patients may experience early contractures, slowly
respiratory status diminishes with progressive humeroperoneal muscle weakness or
age. An elevated CK is typical. wasting, and cardiac disease with conduction defects
and arrhythmias.
Diagnosis is established through
❖ EDMD is associated with mild elevations of serum CK
genetic testing and, less commonly, levels and abnormal electrocardiograms (ECG).
through muscle biopsy if the genetic ❖ There are no disease-specific modifying therapies for
testing is unrevealing. EDMD, although early placement of defibrillators in
patients with abnormal ECGs reduces the incidence of 30
sudden death.
• Facioscapulohumeral dystrophy ✓ Metabolic Myopathies
• It is an autosomal dominant myopathy. ✓ Glycogen storage disease type II (Pompe disease)
• Weakness first appears in the facial and and muscle carnitine deficiency are discussed in
shoulder girdle muscles. Shoulder Several mitochondrial myopathies may present
weakness results in the characteristic with hypotonia, ophthalmoplegia, and progressive
observation of scapular winging, which can weakness, but the phenotype of these disorders is
often be asymmetric. broad.
• Patients have mild ptosis, a decrease in ✓ Endocrine myopathies, including
facial expression, inability to pucker the lips hyperthyroidism, hypothyroidism,
Other Forms of
or close eyes during sleep, neck weakness, hyperparathyroidism, and Cushing syndrome, are
Childhood Muscle
difficulty in fully elevating the arms, and associated with proximal muscle weakness.
Disease
thinness of upper arm musculature (i.e., ✓ Periodic paralysis due to familial forms of
deltoid muscles). hypokalemia or hyperkalemia produces episodic
weakness.
❖ Congenital myopathies
❖ (CM) are a group of nondystrophic muscle disorders that, like CMDs, most typically
present in infancy with hypotonia and weakness.
❖ Additional signs and symptoms include congenital contractures, hip subluxation/ ❑ Laboratory and
dislocation, small/atrophic muscles, thin body habitus, and characteristic facial Diagnostic Studies
appearance (the “myopathic facies”). ❑ For most muscular dystrophies
❖ Symptoms are often nonprogressive or only slowly progressive, although children and myopathies, the diagnosis
often have severe lifelong disabilities including use of wheelchairs, severe scoliosis, is usually established based on
and respiratory failure. laboratory and genetic testing.
❖ Histopathologic subtypes are distinguished by characteristic features on muscle ❑ If the diagnosis is unclear,
biopsy, the most common being nemaline myopathy, centronuclear myopathy, and muscle biopsy may be needed.
core myopathy.
❖ Although no specific therapies currently exist for any CM subtype, several promising 31
therapies have shown efficacy in preclinical models of disease.
❑NEONATAL AND INFANTILE HYPOTONIA
❑The clinical distinction between upper and lower motor
neuron disorders in infants is blurred because incomplete
myelination of the developing nervous system limits
expression of many cardinal signs, such as spasticity.
❑The two critical clinical points are whether the child is
weak and the presence or absence of deep tendon
reflexes.
❑Hypotonia and weakness coupled with depressed or
absent deep tendon reflexes suggest a neuromuscular
disorder.
❑A stronger child with brisk reflexes suggests an upper
motor neuron source for the hypotonia.

32
REFERENCES
● Nelson Essentials of Pediatrics 9th
Edition 2023

● Illustrated textbook of pediatrics.

● Uptodate: Etiology and evaluation of

the child with weakness.

● https://pubmed.ncbi.nlm.nih.gov/28489146/

• Medstudy neurology chapter.

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THANK
YOU

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