The floppy infant ?????? ???? (?????????)

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The floppy infant?????? ???? (?????????)

• Prof. Yoram Nevo
• Head, Unit of Neuropediatrics
• Hadassah, Hebrew University Medical Center

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Terminology

• ?????? ????, ?????????, ?- Floppy
• ????? -??? ??????? ?????? ??????
• ????? ???? ????? ???????? ?? ???? ?????? ??????
  ?? ??????. ???? ???????? ???? ????? ????????
  ????? (????? ????????? ????? ?? ?????) ?/??,
  ??????? ?????? ???????? ?? ?????, ??????? ?????
  ??????
• (Pilon, Sadler, Bartlett, 2000).
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Infantile hypotonia etiological classification

• Central nervous system
• Motor unit (peripheral nervous system)
• Others

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Infantile hypotonia - Etiology

• Most central nervous system injuries cause
  increased tone -hypertonia or spasticity
• However, central (brain) non-pyramidal and
  cerebellar dysfunction can cause hypotonia
• Central nervous system
• Brain injury (Hypoxic Ischemic Encephalopathy)
• Spinal cord injury acute phase
• Brain malformations, Cerebral palsy

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Infantile hypotonia etiological classification

• Central nervous system

• Peripheral nervous system, (Motor unit)

• Others

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Infantile hypotonia Lower motor neuron etiology

• Anterior horn disease
• Spinal muscular atrophy
• Nerve
• Congenital hypomyelinating neuropathy
• Neuromuscular Junction
• Transient or congenital myasthenia
• Infantile botulism

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Infantile hypotonia - Etiology

• Muscle
• Congenital myotonic dystrophy
• Congenital myopathy
• Congenital muscular dystropy

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Infantile hypotonia etiological classification

• Central nervous system

• Motor unit (peripheral nervous system)

• Others

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Infantile hypotonia - Etiology

• Others
• Benign congenital hypotonia
• Connective tissue disorders
• (Ehler-Danlos)
• Down, Pradder Willi syndrome
• Inborn error of metabolism (PKU)
• Endocrine (hypothyroidism)
• Rickets, Celiac

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Benign congenital hypotonia

• Waltons criteria
• Early onset, usually at birth
• Active movement of the legs and normal DTRs
• Normal motor development or mild motor delay that
  improves later on
• Normal CPK, NCS/EMG and muscle biopsy

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Infantile hypotonia etiological
classificationIn summary

• Central nervous system

• Peripheral nervous system, (Motor unit)

• Others

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?????? ????????? ??????????

• HEAD LAG
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• (33 ????? 13 ?????????? ?????, ???? ?????)

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Infantile hypotonia etiological classification

• Central nervous system

• Motor unit (peripheral nervous system)

• Others

How can we differentiate central vs. peripheral
CNS etiology on exam ?
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?????? ??????? ?????????

• ??????? ??????? ???? ???? ?? ????? ???????????
• ?? ??????? ????????? ????? ????????? (upper motor
  neuron) ?????? ????? ?"?????" ?????? ??????
  ???????, ??????? ???????
• ????? ?????? ?????? ??????? ????? ?????? ??????,
  ????? ??????? ??????? ??? ?????? ??????????.

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Neurologic exam Upper motor neuron (CNS) VS.
Lower motor neuron
LMN (peripheral) UMN (central)
? ? May be ? Tone
? To ??? ??? Reflexes
Absent Babinski, clonus, Pyramidal signs
No Yes Persistence of develop reflexes
Yes No Weakness
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Distinction between CNS and motor unit disorders
in the floppy infant

• Children with CNS pathology are not weak due to
  increased tone they have difficulty to control
  movement.
• The key to diagnosis of hypotonia of
  neuromuscular origin (motor unit) is the presence
  of weakness.
• Even in newborn is there anti gravity limb
  movement ?

WEAKNESS !!!!
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????? ?????? ?? ????? ???? ?????

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Infantile hypotonia etiological classification

• Central nervous system

• Motor unit (peripheral nervous system)

• Others

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Neurologic exam of motor unit disorders
Muscle Neuro muscular junction Nerve Ant horn
? ? ? ? Strength
N N N or ? N Sensation
- - /- Fasciculations
Decreased N or decreased Absent Absent Reflexes
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?????? ???????? ???????? ??????

• ????? ??????? (PTOSIS) ????? ?? ????? ?????
  ??????? (OPHTHALMOPLEGIA) ?????? ?????? ?????
  ?????? ?? ????? ????????, ???????? ??????, ?????
  ???????????????
• ????? ???? ???? ????? ?????? ????? ?????????? ,
  ????? ?????, ????? ?????? ???? GOWER
• ?????????? ????? ???????, ???? ?????? ??????-
  pes cavus

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SPINAL MUSCULAR ATROPHY - DEFINITION

• ????? ????? ??????? ?? ???? ??????? ??????
  ?????????? ??????? ?? ??? ??? ?? ??? ???? ??????
  ?? ??? ?????

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Spinal Muscular Atrophy

• Incidence 11 100,000
• Type 1 severe Werdnig Hoffmann
• Type 2 - intermediate type
• Type 3 milder Kugelberg Welander

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Spinal Muscular Atrophy
Onset Function Death
Type 1 lt 6 months Never sit lt 2 years
Type 2 6-18 months Never walk Variable
Type 3 gt 2 years Walk independently -
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Werdnig-Hoffmann

• Extreme hypotonia - frog position
• Age of onset up to 3 months
• Minimal spontaneous movements
• Proximal weakness
• Respiratory distress
• mental alertness

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Werdnig-Hoffmann (contd)

• Atrophy and fasciculation
• Areflexia
• Usually no major contractures
• Never sit
• Death lt 2 years

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SMA - Type 2

• Age of onset Less than 18 months
• Symetrical proximal weakness and hypotonia,
  mostly in the legs
• No respiratory distress
• Atrophy and fasciculations
• Tremor
• Relatively static disease

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SMA - Type 3

• Age of onset gt 2 years
• Onset in adulthood type 4?
• Clinical presentation similar to muscular
  dystrophy (proximal weakness, waddling gait,
  Gowers sign)
• Retained DTRs
• Neurogenic EMG
• Usually no respiratory compromise

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SMALaboratory Evaluation

• Muscle biopsy
• Genetic testing

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SMA
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SMA - GENETICS

• 1990 - Linkage to 5q11-13
• 1995 - SMN - Survival Motor Gene
• In about ( 95) of SMA patients deletions of
  SMN1 are detected, but are not correlated with
  severity (SMA type).
• Severity is correlated to copy number of
  compensatory gene SMN2

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Thank you !