FLOPPY INFANT Flashcards
Floppy Infant?
Infant who is extremely HYPOTONIC at Birth and Early Life
Tongue Fasiculation at BIRTH
CHARACTERISTIC FEATURES OF
SPINAL MUSCULAR ATROPHY TYPE 1
WERDNIG HOFFMAN DISEASE
TYPES OF SMA
🧠⚡ WD KW⚡
1 WERDNIG HOFFMAN DISEASES
2 DUBOWITZ DISEASE
3 KUGELBERG WELANDAR DISEASE
RAGGED DOLL APPEARANCE SEEN IN?
DOLL LIKE FACIES SEEN IN?
SMA 1
VON GIERKE’S DISEASE (TYPE 1 GSD)
Growth hormone deficiency
Characteristic features of WERDNIG HOFFMAN disease
Ragged Doll appearance
Frog like Posture
Difference between CENTRAL and PERIPEHERAL HYPOTONIA
Central HYPOTONIA
CAUSES:
🧠⚡Go! Charul - HIDE ⚡
✨ NEONATAL ENCEPHALOPATHY
✨ IEM- ORGANIC ACIDEMIAS
✨ CNS malformation
✨ Glycogen storage disorders
✨ Hypothyroidism
✨ Connective Tissue disorders: Benign Congenital HYPOTONIA
✨ Down’s Syndrome
Mixed Peripheral and Central Hypotonia
Lipid storage disorders
Causes of PERIPHERAL HYPOTONIA
✨ Anterior Horn Cell diseases - SMA, POLIO
✨ Neuropathy- GBS
✨ NM JUNCTION - Transient Neonatal Myasthenia, OP Poisoning, Snake Bite
✨ Muscle : Muscular dystrophies
Spinal Muscle Atrophy presents at what age?
< 1 years
Infancy
RISDIPLAM Used in
Oral management of SMA
ORAL SPLICING MODIFIER
Corrects SMN2
NUSINERSIN
USE
ROUTE
Use SMN1
ROUTE: INTRA THECAL
Gullian Barre Syndrome
🧠⚡2 Gu-Baare : Left together ➡️ ascend upwards⚡
✨ Ascending symmetrical paralysis
✨ Axonal degeneration and Demyelination
✨ Respirator Failure
🧑🏻⚕️ Clinical Features of GBS
🧠⚡ABCD ⚡
✨ ABCD: AlBumino-Cytological Dissociation
✨AFP
✨ Bladder incontinence
✨ Cranial Nerve Palsies
✨ DTR lost
LAUNDRY’S PARALYSIS seen in
GBS
Antibodies in Different types of GBS
🧠⚡ M ke sath M nhi⚡
🧠⚡ IIM⚡
MILLER FISHER SYNDROME
🧠⚡IMAGINE A fish TAKEN OUT of water⚡
Proximal or Distal weakness
🧠⚡ all muscle dystrophy ➡️ Proximal weakness except few⚡
🧠⚡ all nerve disorder ➡️ Distal weakness ⚡
⚡⚡ MOST COMMON HEREDITARY MUSCULAR DYSTROPHY
Duchene Muscular Dystrophy
🧬 MODE OF INHERITENCE 💉 of DMD
X LINKED RECESSIVE
Xp21
DMD Features
ETEPLIRSEN is used for
DMD
Exon skipping therapy
WADDLING GAIT SEEN IN
✨ DMD
✨ B/L ABDUCTOR PALSY HIP
Becker’s vs DMD
🧠⚡ DMD ➡️ Dumb Child ⚡
💊💉 MANAGEMENT of DMD
⭐ Decrease APOPTOSIS Rate
Deflazocort
Prednisolone
⭐ ETEPLIRSEN
INABILITY TO COMPLETELY CLOSE EYES DURING SLEEP SEEN IN:
FASCIOSCAPULO HUMORAL DYSTROPHY
🧬 MODE OF INHERITENCE 💉 of FSHD
AD
1st SIGN of FSHD
Finger and Wrist Weakness
POPEYE ARM SIGN
seen in:
FASCIOSCAPULO HUMORAL DYSTROPHY
Asymmetric weakness of Facial muscle
⭐ MOUTH is ROUNDED and puckered
⭐ PROTRUDING LIP
FSHD
EMERY DREIFUSS MUSCULAR DYSTROPHY
🧠⚡ 2 word name: 2types of muscle involved⚡
Colour Blindness
Cardiomyopathy
Is ASSOCIATED with
EMERY DREIFUSS MUSCULAR DYSTROPHY
⚡⚡ MOST COMMON ADULT ONSET MUSCULAR DYSTROPHY
LIMB GIRDLE MUSCLE DYSTROPHY
LGMD
DIAMOND SIGN OF THIGH SEEN IN
DYSFERLINOPATHY Type of LIMB GIRDLE MUSCLE DYSTROPHY
TOE WALKING Seen in
CALPAINOPATHY type of LIMB GIRDLE MUSCLE DYSTROPHY
Dystrophin Glycoprotein Complex
🧠⚡ ASS of Deep ➡️ BAM ⚡
CONGENITAL MYOPATHIES
🧠⚡NMC ⚡
Non progressive CONGENITAL neuromuscular disorder
Nemaline Myopathy
Myotubular (Centro nuclear) myopathy
Central core disease
Congenital Fiber type disproportion
