Floppy infant
Dr.Ayesha Tazmeen,intern
Department of paediatrics
MMCH
Infant with:
severely reduced muscle tone.
Decreased resistance to passive range of
movements.
Usually have variable degree of muscle weakness.
Aetiology
Hypotonia with weakness
Awareness intact
Neuromuscular diseases: SMA,myasthenia gravis,
congenital neuropathy or myopathy
Spinal cord diseases(cervical cord trauma or
compression):tumour,infarct,malformation ,spina
bifida,syringomyelia.
Consciousness depressed.
Severe brain illness
Hydrocephalus
Infectious
Metabolic( anoxia ,hypoglycaemia)
Intoxication through mother:
mgso4 ,narcotics,barbiturates,benzodiazepines,ge
neral anaesthetics
Hypotonia without weakness:
Acute systemic illness
Specific syndromes:
Down syndrome
Zellwager peroxisomal disorder( cerebrohepatorenal)
Lowe syndrome(oculocerebrorenal)
Menkes syndrome( copper metabolism disorder)
Prader willi syndrome .
Connective tissue disorder:
Ehler -danlos syndrome(collagen)
Marfan syndrome
Congenital laxity of ligaments
Nutritional metabolic disease:
Rickets
Celiac disease
Biliary atresia
Renal tubular acidosis
Congenital heart disease
Benign congenital hypotonia
Clinical features
Flailness or Hypotonia
Abnormal postures like frog-like posture, rag- doll posture on
ventral suspension.
Diminished resistance to passive movements.
Abnormal joint mobility
Delay in motor milestones.
A floppy child slips on holding
Investigations
1. Chromosomal analysis( down syndrome )
2. Creatinine phosphokinase( muscular dystrophy)
3. Nerve conduction velocity( neuropathies)
4. Muscle biopsy( myopathies, muscular dystrophy)
5. Tensilon test( myasthenia gravis)
6. Urine screening tests( metabolic disorders)
7. Thyroid screening( hypothyroidism)
8. Serum lactate and CSF lactate
9.MRI( cerebral disorders)
Complications
Respiratory infections
Orthopedic problems such as scoliosis, club foot,
contractures
Aspiration of feeds.
Treatment
Physiotherapy
Adequate nutrition
Genetic counselling for chromosomal disorders and inborn
errors of metabolism.
Spinal muscular atrophy
Progressive degeneration
of anterior horn cells
Autosomal recessive
disease
Type 1a ( werdnig - Hoffman disease)
H /o sluggish fetal movements.
Marked Hypotonia
Poor sucking
Dysphagia
Weak cry
Pooling of secretions in pharynx.
Fasciculations of tongue.
Absent deep tendon reflexes.
They have normal cognitive ,social and language
skills and sensations.
Lower-limbs affected more than upperlimbs
Proximal muscles affected more than distal
muscles
Death due to respiratory failure by 2 years.
Type lb
Onset: 3 months to 6 months.
Less fulminant course.
Life span more than 10 years
Type 11( dubowitz disease)
Onset: 6months - 18 months
Manifests in 1st year of life
Survival beyond 10 years
Child is unable to walk or stand.
Type 111 ( kugelberg -welander
syndrome)
Onset: after 18 mouths
The child can walk for some period.
Type lv
Occurs in adults
Life span is normal.
Treatment
No specific treatment delays progression of SMA
Symptomatic treatment to prevent complications
Respiratory infections managed early with pulmonary
hygiene,oxygen, and antibiotics
ZOLGENSMA(adeno associated vector based gene therapy)
within 2yrs.
And two drugs called nusinersen and risdiplam.
MCQ’S
Which of the following posture is seen
in hypotonia ?
a. Decerebrate posture
b. Decorticate posture
c. frog posture
d. Opisthotonus
SMA is?
a. An autosomal recessive disorder
b. A Progressive disease
c. caused due to degeneration of anterior horn cells
d. All of the above
Which of the following is not true
regarding SMA type 1?
1.Marked hypotonia
2. Distal muscles are affected more than proximal muscles
3. upper limbs are affected more than lower limbs
4. Absent deep tendon reflexes
5.poor sucking and weak cry
a. 1,4,5. b. 2and 3. c. 3and 4. d. None of the
above.
Match the following
a)Dubowitz
disease
1. SMA tYpe 1
b)Kugelberg -
2. SMA type 2 welender disease
3. SMA type 3 c)Werdnig -
hoffman disease
The maximum milestone achieved in
SMA type 2 and 3 respectively are?
a. Standing and walking
b. Sitting and walking
c. Sitting and standing
d. Crawling and sitting
Reference
1. Aruchamy lakshmanaswamy, CLINICAL PAEDIATRICS,
edition 4, chapter 11, page no 588-590.
2. Nelson textbook of paediatrics,edition 21, section
24,neurology, page no 652,653.
THANK YOU
