MBBS,MCPS,FCPS-II,👨🏫👨⚕️🧠🇵🇰
#Member American Epilepsy Society , #American Academy Of Neurology, #International Movement Disorder Society!!
Sep 15, 2020 • 7 tweets • 4 min read
1) Migraine Premonitory(Prodromal) Phase::
Presences of non-painful Symptoms, which can start hours to days before the onset of migraine pain and can be predictive of an impending headache.
2) Three Separate Groups of Symptoms::
1::Fatigue & Cognitive changes...
Concentration difficulty, Irritability, depression, fatigue, memory impairment.
2::Homeostatic Changes...
Food craving, Thirst, Yawning, Increased Urination, Sleep disturbance.
Sep 15, 2020 • 12 tweets • 4 min read
1) Migraine with AURA::
Recurrent attacks of unilateral fully reversible visual, sensory, or other CNS symptoms that develops gradually over minutes and usually followed by Headache and associated Migraine Symptoms.
2) Total 20-40% prevalent,Increased risk in 1st degree Relative + twins + Heritibility. Onset::
Gradual and progressive, unlike abrupt in Stroke.
AURA consists of Positive symptoms like flashing lights, and paresthesia while stroke dominates Negative symptoms like weakness.
Aug 25, 2020 • 12 tweets • 4 min read
1) Absence Seizures::
Age 5 years to 10 years, history of febrile seizures in only significant.
Simple TAS:
Sudden onset of impaired Consciousness with blank facial stare without other motor, behavioral phenomenon.
Complex TAS:
Accompanied by motor, behavioral or Autonomic
2) phenomenon.
Clonic... May be subtle, like eye-blinking, Nystagmus, jerk of arms.
Tone... Extension or flexion of trunk in case of contractions(increase tone) , head nodding or dropping objects in case decrease Tone.
Automatism... Rubbing face or hand, licking lip, chewing,
Aug 21, 2020 • 10 tweets • 3 min read
1) GEFS plus (Genetic Epilepsy with Febrile Seizures plus)
Mildest Benign Form: Normal EEG + IMAGING
1:Simple Febrile Seizures
2:Febrile Seizures Plus
Severe Form: Abnormal EEG + IMAGING
3:Dravet Syndrome
4:Doose Syndrome
2) GEFS plus is a genetic syndrome, Defect in 4 Genes, SCN1A, SCN1B, GABRG2, GABRD. Other seizures with FS Or FS-plus are Absence, atonic, myoclonic, and partial.
FS:
Typical convulsive seizures, 6month-6years, with fever 38c' or greater.
Aug 16, 2020 • 17 tweets • 3 min read
1) MYOTONIA
Pure stiffness : Chloride channelopathy
Pure periodic weakness : Calcium + Potassium Channalenopathy
Overlapping Syndrome: (Myotonia, Paramyotonia, HyperKK, HypoKK) Sodium Channelopathy
A=CHLORIDE CHANNEL (Myotonia congenita)
Chloride channelopathy(CLCN1) ,Family
2) Hx, Two forms, face + limbs(distal muscles)
AD#Thomson early onset, Less severe, muscle hypertrophy.
AR#Beckor.. Late onset, more severe, shows warm up phenomenon.
Dx:
CMAP amplitude decrement short post-exercise which rapidly returns to baseline. Decrement that repairs
Aug 11, 2020 • 5 tweets • 1 min read
(1/4) Collagen VI CMD
Gene's..... COL6A1, COL6A2, COL6A3.
Progressive contractures, rigid spine, distal joint laxity, respiratory function decline,keloid scar, normal-moderate CK elevation.
(2/4) 1:Ulrich severe Type
AR, At birth, decrease fetal movements, kyphoscoliosis, distal joints hyper-laxity, contracture of proximal joints(hip joints), hyperkeratosis pilaris on the extensor surface of hands. Loose ambulation at 10 yrs