Hikmatullah Khan,FCPS Neurology Profile picture
MBBS,MCPS,FCPS-II,πŸ‘¨β€πŸ«πŸ‘¨β€βš•οΈπŸ§ πŸ‡΅πŸ‡°πŸ‡ΈπŸ‡¦πŸ‡¦πŸ‡« #Member American Epilepsy Society , #American Academy Of Neurology, #International Movement Disorder Society!!
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15 Sep
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.
3) 3::Sensory Changes...
Photo, phono, osmo, Phobia, nause, neckstiffness.
Read 7 tweets
15 Sep
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.
3) Duration::
Typically 30 minutes but may be Prolong upto 4 hours. Symptoms::
Visual(90%,most common) > Sensory, language, motor.
Visual::
Scintillating scotoma, Flashing lights, Blurry Visions.
Read 12 tweets
25 Aug
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,
3) grimacing, scratching.
Autonomic...Pallor, Flushing, salivation, sweating.

Atypical Absences::
Less abrupt onset or cessation, more changes in tone, long duration than TAS, associated with other seizures types & mental Retardation, usually begin before age 5 years,
Read 12 tweets
21 Aug
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.
3) FS-plus:
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).
Read 10 tweets
16 Aug
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
3) with repeated trials. Cooling no affect.
Rx:
Mexelitine,Tegral, Phenytoin, Procainamide.
All muscle membrane stabilizers by blocking Sodium Channels.

B=Na CHANNEL (paramyotonia congenita)
Proximal + distal limbs muscles, face, neck.
Worse with cold + exercise
SCN4A
Read 17 tweets
11 Aug
(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
(3/4) 2:Intermediate
With time Ulrich develope other symptoms like Respiratory involvement, Rigid Spine,Distal hands contractures.loose ambulation at 19 yrs.
Read 5 tweets
8 Aug
(1/7) Lipid Myopathy
1:Carnitine Palmitoyltransferase 2 deficiency
2:VLC acyl-CoA-Dehydrogenase deficiency
3:Trifunctional Deficiency
(2/7) Metabolism of fats,Beta-Oxidation, Carnitine.
Excessive accumulation of fatty acids,fatty liver, cardiomyopathy.
Exercise induced weakness, static myopathy, Fasting non-ketotic hypoglycemia, Rhabdomyolysis.
(3/7) Labs:
EMG-Myopathic patterns,
BLOOD: lncreased CK, low free carnitine, increased Acylcarnitine, lactate, urinary organic acids,
During Crises ⬆️ CK, Acylcarnitine, myoglobunuria, hypoglycemia, absent ketone formations.
Read 9 tweets
8 Aug
1/10 Mitochondrial Myopathy

A=Muscles:
Symmetric,proximal, ⬆️ CK + Growth Differentiating Factor-15, EMG-Myopathic finding
Biopsy - Cox negative Fibre, Red + Blue ragged Fibres.
2/10 B=Brain:
Ataxia,Dementia,Strokes,Migraine, Dystonia, Mood issues, seizures, Epilepsia partialis (1)
3/10 continue(MELAS+POLG) .
MRI Brain,CSF lactat,EEG.
Leigh-Central gray matter,Putamen, caudate, thalamus, cerebellum, midbrain, pons, Medulla, longtracts.
MELAS- Parital +Occipital lobes.(2)
Read 13 tweets