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.
Typically 30 minutes but may be Prolong upto 4 hours. Symptoms::
Visual(90%,most common) > Sensory, language, motor.
Scintillating scotoma, Flashing lights, Blurry Visions.
1) Absence Seizures::
Age 5 years to 10 years, history of febrile seizures in only significant.
Sudden onset of impaired Consciousness with blank facial stare without other motor, behavioral phenomenon.
Accompanied by motor, behavioral or Autonomic
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,
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
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.
Typical convulsive seizures, 6month-6years, with fever 38c' or greater.
Mild form of generalized epilepsy, different presentations.
1:Febrile Seizures continues past 6 years which is upper limit of FS, than decrease gradually.
2:Febrile Seizures and Afebrile seizures upto typical age for Febrile Seizures.(6 months to 6 years).
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.
CMAP amplitude decrement short post-exercise which rapidly returns to baseline. Decrement that repairs
3) with repeated trials. Cooling no affect.
Mexelitine,Tegral, Phenytoin, Procainamide.
All muscle membrane stabilizers by blocking Sodium Channels.
(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
With time Ulrich develope other symptoms like Respiratory involvement, Rigid Spine,Distal hands contractures.loose ambulation at 19 yrs.