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Defination

Floppiness is a term used to describe babies who


have marked muscle hypotonia
 It is important to distinguish weakness from hypotonia.
 Hypotonia is described as reduced resistance to passive
range of motion in joints; impairment of the ability to
sustain postural control and movement against gravity
 Weakness is reduction in the maximum
power that can be generated.
CNS
 Perinatal asphyxia
 Intra cranial hemorrhage
 Cerebellar hypoplasia
 Chromosomal disorders-Down syn,Prader-Willi
synd
 Peroxisomal-Zellwerger synd
 Genetic –Lowe syn, Familial dysautonomia
 Infantile GM1 gangliosidosis
SPINAL CORD
 Spinal muscular atrophies
 Hypoxic ischemic myelopathy
 Spinal cord injury(Breech with hyper extended head)
PERIPHERAL NERVES
 Cong hypomyelinating neuropathy
 Giant axonal neuropathy
 Hereditary motor sensory neuropathies

NM JUNCTION

 Familial infantile myasthenia


 Transitory myasthenia gravis
 Infantile botulism
MUSCULAR
MUSCULAR DYSTROPHIES

 Cong muscular dystrophy


 Cong myotonic dystrophy

CONGENITAL MYOPATHIES

 Central core disease


 Multiminicore disease
 Cong fiber type disproportion disease
 Myotubular myopathy
 Memaline myopathy
 METABOLIC MYOPATHIES

 Pompe’s disease
 Mitochondrial myopathies

 MISCELLANEOUS

 PEM
 Malabsorption synd
 Cretinism
 Ehler Danlos synd
Prevelance

 Most common cause is HIE(19%)


 Other imp causes are Downs syndrome(13%)
 Spinomuscular atrophy
 Congenital hypothyroidism
 Pradder willi syndrome
Approach to floppy infant
HISTORY of presenting
complains
 H/O poor sucking & swallowing,
 H/O weak cry
 H/O constipation ptosis
 H/O developmental delay
 H/O seizures
 H/O diurnal variation
 H/O repeated cough and cold
Antenatal history
 Fetal movements
 Breech presentation
 poly or oligohydramnios.
 Birth trauma, birth anoxia,
 delivery complications,
 low cord pH and Apgar scores are crucial
 maternal illness, maternal exposure to infectious
agents, and maternal drug or alcohol use.
Family history
 H/O consanguinous marriage
 H/O sibling affection
 H/O fatiguability of the eyelids or arms with sustained
forward extension in mother
Clinical Presentation
 Posture of full abduction and
external rotation of the legs as well
as a flaccid extension of the arms.

 When traction is delivered to the


arms, there is a prominent head
lag.

 The presence of a typical ‘myopathic’


facies and paucity of facial
expression are common in hypotonic
infants

 Low-pitched cry / progressively


weaker cry, readily distinguished
from the vigorous cry of a normal
infant.

 Paucity of antigravity
movements
Infant who has trisomy and hypotonia,
showing “U”
posture with horizontal suspension.

Developmental delay
and hypotonia, as evidenced by significant
head lag with
traction.
Hypotonia, as evidenced by the “shoulder slip
through” response
With vertical suspension.
W sitting sign of hypotonia and hyperlaxity
EARLY ONSET IN UTERO
 Arthrogryposis

 Hip dislocation
 Undescended testis

 These features may be


seen when disease
affects in utero
Additional Clinical Clues to
Differential Diagnosis
A high arched palate is often noted in infants with neuromuscular
disorders

• The tongue may be large, Visceral enlargement in storage disorders (acid


maltase/Pompe disease)

• The presence of tongue fasciculation suggests anterior horn cell involvement


and denervation

• Arthrogryposis: can be a feature encountered in both neurogenic and myopathic


disorders.

External ophthalmoplegia, ptosis Myasthenic syndrome

Wasting of temporalis muscles, inability to open the hand after maximum grip (as
found in the infant’s mother) Myotonic dystrophy
SITE PATTERN OF WEAKNESS AND
INV
CNS Axial hypotonia

AHC Gen weakness, often spares


diaphragm, facial muscles,pelvis
& sphincters.
Nerve
Distal muscle gps inv,
weakness with wasting.
NM Jn
Bulbar,occulomotor muscles
exhibit greater degree of inv
Muscle Weakness is prom, prox muscles,
joint contractures.
REFLEXES NORMAL

NM junction disorder

• BOTULISM
• MYASTHENIA(congenital/transient)
•HYPO- TO AREFLEXIA
•SELECTIVE MOTOR DELAY
•NORMAL HEAD CIRCUMFERENCE
•SOCIAL NORMAL

LOWER MOTOR NEURON DISORDER


PERIPHERAL HYPOTONIA

Distal proximal

•SPINAL MUSCULAR ATROPHY


Spinal
•CONGmuscular
MYOTONICatrophy
DYSTROPHY
•CONGENITAL Cong myotonic dystrophy
Neuropathies •CONG MUSCULAR DYSTROPHIES
STRUCTURAL MYOPATHIES Cong muscular dystrophies
Investigations for central
cause
 Serum electrolytes, including calcium and phosphate
 Thyroid function,bilirubin levels
 Plasma copper/caeruloplasmin assay (as screening test
for Menkes syndrome)
 Chromosomal analysis (trisomy),
 testing for Prader-Willi syndrome(15q11–13)
 Plasma amino acids and urine organic acids
 Very long chain fatty acids
 Brain imaging (CT/MRI)
Investigations of peripheral
hypotonia
 Creatinine kinase

 EMG /NCS/repetitive nerve stimulation test
 Muscle biopsy (histology, immunohistochemistry,
electron microscopy)
 Genetic testing (gene deletion for spinal muscular
atrophy type 1, myotonic dystrophy,congenital
myasthenic syndromes)
 Nerve biopsy (rarely)
 Tensilon test
SITE DTR EMG MUSCLE
BIOPSY

CNS N or Incr Nrl Nrl


AHC 0 Fasic/Fibrill Den pattern
Periph Ner Decr Fibrill Den pattern
NM Jn Nrl Decr resp Nrl
(myasth)
Incr resp
(Botulism)
MUSCLE Decr Short dur, Myopathic
small amp pattern
HIE
 Hypoxic-ischemic encephalopathy is probably the most
frequent cause of hypotonia during the neonatal period.
 Mild hypoxic encephalopathy produces a transient
generalized hypotonia with decreased dynamic tone
that lasts for a few days.
 Severe hypoxic ischemic encephalopathy initially
produces hypotonia with decreased dynamic tone
followed several weeks later by hypotonia with
increased dynamic tone
SPINAL MUSCULAR ATROPHY
 Progressive degenerative diseases of motor
neurons.
 Pathologic continuation of prog cell death that is
normal in embryonic life.
 TYPE 1-WERDNIG-HOFFMAN DISEASE
-Severe infantile form
-Gen weakness (prx > dist ), decr muscle
mass, hypotonia &areflexia
-Feeding difficulties
-Death from asp and pneumonia.
 TYPE 2 SMA

-Late infantile &slowly prog form.


-Nasal speech & problem with deglutition
occurs later
-Scoliosis with longer survival

 TYPE 3-KUGELBERG WELANDER DIS

-Mildest form
-Pts are ambulatory.
Diagnosis of SMA
 EMG shows spontaneous fibrillation potential.

 Muscle biopsy neurogenic atrophy and evidence of


presence of hypertrophic type I myofibres (re-innervation)

 DNA based molecular diagnostic tests

 ECG shows baselinee fasciculations

 Hydroxyurea ,Phenylbutyrate and Valproate have been tried in SMA


Downs syndrome
Hypotonia was found in 7 to 8% patients downs
syndrome with
following phenotypic findings:
 Simian crease,
 sandal gap,
 epicanthic folds,
 upslanting palpebral fissures,
 and protruding tongue.
Hypothyroidism

 Hypotonia with decreased reflexes may be seen in


congenital hypothyroidism
 Other features Prolongation of physiologic jaundice
may be the earliest sign.
 Pseudohypertrophy of muscle may be seen older
children
 Improves with treatment
PEM
 Motor weakness, hypotonia, and hyporeflexia in infants
and children are the essential clinical neurological signs in
protein-calorie malnutrition.
 These features are secondary to hypokalemia and
reduced phosphorus levels
 Refeeding syndrome may complicate the acute nutritional
rehabilitation of children,
 phosphate levels of ≤0.5 mmol/L can produce weakness,
rhabdomyolysis.
CONGENITAL MYOPATHIES
 Develop disorders of skeletal muscles
 Hypotonia, prox limb weakness, decr or absent
reflexes
 CENTRAL CORE DISEASE
-Risk of malig hyperthermia
-MB-central area with decr enz activity
&mitochondria
 MULTIMINICORE DISEASE
-Axial weakness
-MB-multiple small zones of sarcomeric disorg
with lack of oxidative activity.
 CONG FIBER-TYPE DISPROPORTION MYOPATHY
-Dysmorphic features, ptosis, disturb of
occular motility, high arched palate
-MB-Type 1 fiber predominance
 MYOTUBULAR MYOPATHY
-Ptosis,occular palsies,facial weakness
-MB-Myotubules and central nucleus.
 NEMALINE ROD MYOPATHY
-Elongated face,open mouth, high arched palate
-MB-Multiple rod like particles within muscle fibers.
MYOTONIC DYSTROPHIES
 CONG MUSCULAR DYSTROPHY
 MEROSIN(ALPHA 2 LAMININ) +VE
-Muscular disease without cerebral inv
Ullrich disease-muscle fiber necrosis sec to loss of collagen links.
 PRIMARY MEROSIN DEFICIENT
-More severe type
-muscle hypertrophy not present
 SEC MEROSIN DEFICIENT(SYNDROMIC)
-Ass neuronal migration defects
Fukuyama CMD
Muscle Eye Brain Disease
Walker Warburg synd
 CONG MYOTONIC DYSTROPHY
-Preterms
-Multi system disorder
-Facial diplegia
-GI dysfunction
-CVS-arrythmias
-Limb weakness prox> distal in newborns
-Percussion myotonia –ve in newborns
 CONG DYSTROPHINOPATHY
-Dystrophin is completely absent.
Myasthenia Syndrome
Infants presenting with the myasthenia syndrome share
several features including:

- hypotonia
- facial diplegia
- ptosis
- feeding difficulties
- apnea
- respiratory difficulties
- generalized weakness
- progressively weakening cry
Transient Myasthenic Syndrome
The disorder occurs in infants born to mothers with
myasthenia gravis.

• The acetylcholine receptor (AchR) antibody that causes


MG crosses the placenta and exerts a blocking effect that
is responsible for the interference with neuromuscular
transmission.

• The symptoms caused are temporary and recovers in


about 6 weeks
Botulism
Usually occurs within 6 weeks to 1 year after birth

• Usually in situations where the infant has been fed honey


contaminated with spores of the C. botulinum.

• The first symptom is usually constipation.

• Later, listlessness, ptosis, facial weakness, decreased eye movements


and feeding difficulties, and progression to respiratory failure occur.

• Rapid repetitive stimulation : presence of small amplitude motor


potentials and an incremental response noted to is pathognomonic.

• Stool study may also be helpful in confirmation, but the results are
usually delayed
MANAGEMENT
 AIMS OF MANAGEMENT
-Family support &education
-Prevention &management of complications
-Enhancing function
-Palliation of symptoms
-Specific therapies
COMPLICATIONS &ITS MGT
 MALNUTRITION

 CONTRACTURES
-Physiotherapy
-Prone lying
-Orthoses
-Surgery for release of contractures & tendon lengthening.

 SCOLIOSIS
-Bracing
-Surgery(post fusion)
 RESPIRATORY MGT
-Regular monitoring of FVC
-Assessment of bulbar function
-Chest physiotherapy
-Hib, Pneumococcal & annual flu vaccines
-Intubation & mech ventilation

 CARDIAC COMPLICATIONS
-Ventricular dysfunction - cardiac failure
muscle dystrophy,metabolic &cong myopathy
-Dysrhythmias-Myotonic dystrophy
SPECIFIC THERAPIES
 NM disorders-Neostigmine
 Myotonic dyst-Phenytoin,quinidine
 Central core disease-Salbutamol
 Central hypomyelinating neuropathy-prednisolone
 Familial dysautonomia-Bethenechol
 Pompe’s- alpha glucosidase
Take home message
 When evaluating a floppy infant,the first goal should
be to distinguish whether the disorder is central or
peripheral in origin.

 Hypotonia with weakness suggests a lower motor


neuron lesion,
 Weakness is uncommon in disorder affecting the upper
motor neuron
 If clinical evaluation suggests complex multisystem
involvement (i.e. hypotonia plus) inborn errors of
metabolism should be excluded
References

 Nelson Textbook Of Paediatrics


 Fenichel Clinical Paediatric Neurology