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NM JUNCTION
CONGENITAL MYOPATHIES
Pompe’s disease
Mitochondrial myopathies
MISCELLANEOUS
PEM
Malabsorption synd
Cretinism
Ehler Danlos synd
Prevelance
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
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
NM junction disorder
• BOTULISM
• MYASTHENIA(congenital/transient)
•HYPO- TO AREFLEXIA
•SELECTIVE MOTOR DELAY
•NORMAL HEAD CIRCUMFERENCE
•SOCIAL NORMAL
Distal proximal
-Mildest form
-Pts are ambulatory.
Diagnosis of SMA
EMG shows spontaneous fibrillation potential.
- 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.
• 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.