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3 NERVOUS SYSTEM > FLOPPY INFANT > Flashcards

FLOPPY INFANT Flashcards

1
Q

Floppy Infant?

A

Infant who is extremely HYPOTONIC at Birth and Early Life

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2
Q

Tongue Fasiculation at BIRTH
CHARACTERISTIC FEATURES OF

A

SPINAL MUSCULAR ATROPHY TYPE 1
WERDNIG HOFFMAN DISEASE

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3
Q

TYPES OF SMA
🧠⚡ WD KW⚡

A

1 WERDNIG HOFFMAN DISEASES
2 DUBOWITZ DISEASE
3 KUGELBERG WELANDAR DISEASE

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4
Q

RAGGED DOLL APPEARANCE SEEN IN?

DOLL LIKE FACIES SEEN IN?

A

SMA 1

VON GIERKE’S DISEASE (TYPE 1 GSD)
Growth hormone deficiency

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5
Q

Characteristic features of WERDNIG HOFFMAN disease

A

Ragged Doll appearance
Frog like Posture

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6
Q

Difference between CENTRAL and PERIPEHERAL HYPOTONIA

A
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7
Q

Central HYPOTONIA
CAUSES:
🧠⚡Go! Charul - HIDE ⚡

A

✨ NEONATAL ENCEPHALOPATHY
✨ IEM- ORGANIC ACIDEMIAS
✨ CNS malformation
✨ Glycogen storage disorders
✨ Hypothyroidism
✨ Connective Tissue disorders: Benign Congenital HYPOTONIA
✨ Down’s Syndrome

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8
Q

Mixed Peripheral and Central Hypotonia

A

Lipid storage disorders

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9
Q

Causes of PERIPHERAL HYPOTONIA

A

✨ Anterior Horn Cell diseases - SMA, POLIO
✨ Neuropathy- GBS
✨ NM JUNCTION - Transient Neonatal Myasthenia, OP Poisoning, Snake Bite
✨ Muscle : Muscular dystrophies

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10
Q

Spinal Muscle Atrophy presents at what age?

A

< 1 years
Infancy

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11
Q

RISDIPLAM Used in

A

Oral management of SMA
ORAL SPLICING MODIFIER
Corrects SMN2

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12
Q

NUSINERSIN
USE
ROUTE

A

Use SMN1
ROUTE: INTRA THECAL

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13
Q

Gullian Barre Syndrome
🧠⚡2 Gu-Baare : Left together ➡️ ascend upwards⚡

A

✨ Ascending symmetrical paralysis
✨ Axonal degeneration and Demyelination
✨ Respirator Failure

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14
Q

🧑🏻‍⚕️ Clinical Features of GBS
🧠⚡ABCD ⚡

A

✨ ABCD: AlBumino-Cytological Dissociation
✨AFP
✨ Bladder incontinence
✨ Cranial Nerve Palsies
✨ DTR lost

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15
Q

LAUNDRY’S PARALYSIS seen in

A

GBS

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16
Q

Antibodies in Different types of GBS
🧠⚡ M ke sath M nhi⚡
🧠⚡ IIM⚡

A
17
Q

MILLER FISHER SYNDROME
🧠⚡IMAGINE A fish TAKEN OUT of water⚡

A
18
Q

Proximal or Distal weakness

A

🧠⚡ all muscle dystrophy ➡️ Proximal weakness except few⚡
🧠⚡ all nerve disorder ➡️ Distal weakness ⚡

19
Q

⚡⚡ MOST COMMON HEREDITARY MUSCULAR DYSTROPHY

A

Duchene Muscular Dystrophy

20
Q

🧬 MODE OF INHERITENCE 💉 of DMD

A

X LINKED RECESSIVE
Xp21

21
Q

DMD Features

A
22
Q

ETEPLIRSEN is used for

A

DMD
Exon skipping therapy

23
Q

WADDLING GAIT SEEN IN

A

✨ DMD
✨ B/L ABDUCTOR PALSY HIP

24
Q

Becker’s vs DMD
🧠⚡ DMD ➡️ Dumb Child ⚡

A
25
Q

💊💉 MANAGEMENT of DMD

A

⭐ Decrease APOPTOSIS Rate
Deflazocort
Prednisolone

⭐ ETEPLIRSEN

26
Q

INABILITY TO COMPLETELY CLOSE EYES DURING SLEEP SEEN IN:

A

FASCIOSCAPULO HUMORAL DYSTROPHY

27
Q

🧬 MODE OF INHERITENCE 💉 of FSHD

A

AD

28
Q

1st SIGN of FSHD

A

Finger and Wrist Weakness

29
Q

POPEYE ARM SIGN
seen in:

A

FASCIOSCAPULO HUMORAL DYSTROPHY

30
Q

Asymmetric weakness of Facial muscle
⭐ MOUTH is ROUNDED and puckered
⭐ PROTRUDING LIP

A

FSHD

31
Q

EMERY DREIFUSS MUSCULAR DYSTROPHY
🧠⚡ 2 word name: 2types of muscle involved⚡

A
32
Q

Colour Blindness
Cardiomyopathy
Is ASSOCIATED with

A

EMERY DREIFUSS MUSCULAR DYSTROPHY

33
Q

⚡⚡ MOST COMMON ADULT ONSET MUSCULAR DYSTROPHY

A

LIMB GIRDLE MUSCLE DYSTROPHY

34
Q

LGMD

A
35
Q

DIAMOND SIGN OF THIGH SEEN IN

A

DYSFERLINOPATHY Type of LIMB GIRDLE MUSCLE DYSTROPHY

36
Q

TOE WALKING Seen in

A

CALPAINOPATHY type of LIMB GIRDLE MUSCLE DYSTROPHY

37
Q

Dystrophin Glycoprotein Complex
🧠⚡ ASS of Deep ➡️ BAM ⚡

A
38
Q

CONGENITAL MYOPATHIES
🧠⚡NMC ⚡

A

Non progressive CONGENITAL neuromuscular disorder

Nemaline Myopathy
Myotubular (Centro nuclear) myopathy
Central core disease
Congenital Fiber type disproportion

3 NERVOUS SYSTEM (40 decks)

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