SYSTEMIC
RENAL
GLOMERULAR
ACTION MYOCLONUS RENAL FAILURE
(SCARB2)
GLOMERULAR DYSFUNCTION
PARKINSONISM/ MYOCLONUS
TUBULAR
FABRY (GLA)
CHILD-JUVENILE
PERIODIC ACROPARESTHESIA/ PAIN
SMALL FIBER NEUROPATHY
CRAMP FASCICULATIONS SYNDROME
PARKINSONISM (BG INFARCT)
DYSTROPHIC BRAIN CALCIFICATION
DEAFNESS/ TINNITUS/ VISION PROBLEMS
CORNEAL/ LENTICULAR OPACITIES
SMALL/ LARGE VESSEL STROKES/ MI
LEFT VENTRICULAR HYPERTROPHY
RENAL FAILURE (TUBULAR DISEASE)
KEARN SAYRE SYNDROME
DEAFNESS
PIGMENTARY RETINOPATHY
CPEO
COQ10 DEFICIENCY (APTX/ADCK3)
HYPOGONADISM/SEIZURES
PES CAVUS/ MYOPATHY
Rx: COQ10 30MG/KG/DAY
THREE DIVIDED DOSES
GLUTARIC ACIDURIA (GCDH)
COGNITION/ ATAXIA/ DYSTONIA
GA IN URINE CAN BE NEGATIVE
LAB: URINE ORGANIC ACID
MRI: OPEN OPERCULA/ SDH/ WMH
RX: LOW LYSINE DIET/ CARNITINE SUPPLEMENT
METHYLMALONIC ACIDURIA
DYSTONIA/ CHOREA
TREMOR/ ATAXIA
RX: SOME CASES RESPOND TO VIT B12
LESCH NYHAN SYNDROME
DYSARTHRIA/ DYSTONIA/ TICS
ARTHRITIS/ SELF MUTILATION
WILSON DISEASE (ATP7B)
LIVER/ NEUROLOGICAL/ PSYCHIATRY
DYSTONIA/ CHOREA/ PARKINSONISM
DEPRESSION/ OCD/ PHOBIAS
PROTEINURIA/ ARTHRITIS/SUNFLOWER CATARACT
CARDIOMYOPATHY/ ARRHYTHMIAS
LIVER
SCL30A10/ SCL39A14 (MN TRANSPORTER)
HYPERMANGANESEMIA
BEHAVIORAL CHANGES
PARKINSONISM/ DYSTONIA
SPASTIC PARAPARESIS/ FINE TREMOR
COCKWALK:
TOE WALK/ ERECT SPINE/ ELBOW FLEXED
ALSO SEEN IN SCA3/ PKAN
LAB: POLYCYTHEMIA/ CIRRHOSIS (SCL30A10)
MRI: GPI HYPERINTENSITY (T1)
RX: CHELATION WITH EDTA/ D -PENICILLAMINE
WILSON DISEASE (ATP7B)
LIVER/ NEUROLOGICAL/ PSYCHIATRY
DYSTONIA/ CHOREA/ PARKINSONISM
DEPRESSION/ OCD/ PHOBIAS
PROTEINURIA/ ARTHRITIS/SUNFLOWER CATARACT
CARDIOMYOPATHY/ ARRHYTHMIAS
METABOLIC/ DRUGS
NEUROLEPTIC
ANTI DOPAMINERGIC
ANTI DOPAMINERGIC WITHDRAWAL
ANTIEMETICS (D2 BLOCKER)
PROMETHAZINE (PHENERGAN)
PROCHLORPERAZINE (STEMETIL),
D2 RECEPTOR BLOCKER
USED FOR VERTIGO/ NAUSEA
METOCLOPRAMIDE (REGLAN)
ANTIDEPRESSANTS
SSRI
METABOLIC
HYPERMANGANESEMIA
CARBON MONOXIDE POISONING
METHANOL POISONING
HYPOPARATHYROIDISM
CENTRAL PONTINE MYELINOSIS
VASCULAR
BRUXISM (DYSTONIA/ AKATHISIA)
ANTI DOPAMINERGIC
SNRI
AUTOIMMUNE
NMDA AB
SYDENHAM LIKE PRESENTATION
MUTISM/ AUTONOMIC DYSFUNCTION
CENTRAL HYPOVENTILATION
STEREOTYPE (PRESENT IN SLEEP)
FACE DYSKINESIA
LIMB/TRUNK DYSKINESIA
PSYCHOSIS PRESENTATION
FEVER/ HEADACHE/ VOMITING
POST HSV/ VZV INFECTION
MALIGNANCIES:
OVARY/ BREAST
SMALL CELL LUNG CARCINOMA
RI AB
OROMANDIBULAR DYSTONIA
IgLON5 AB
SLEEP PROBLEMS:
OSA/RBD/NREM/ STRIDOR
OCULAR:
SACCADIC INTRUSIONS/ VSGP
NEUROLOGICAL:
COGNITION/SEIZURES/ENCEPHALOPATHY
PARKINSONISM/DYSTONIA/ATAXIA
OROMANDIBULAR DYSTONIA
OROFACIAL DYSKINESIA
HYPEREKPLEXIA
MYORHYTHMIA/ TREMOR
MYOKYMIA
AUTONOMIC DYSFUNCTION
DIABETES INSIPIDUS
PHENOTYPES
CBS/ PSP/MSA/HD/ SPS/MND
PAROXYSMAL DYSTONIA
AQUAPORIN 4 / MOG
NEUROMYELITIS OPTICA SPECTRUM
NMDA AB
MUTISM/ AUTONOMIC DYSFUNCTION
CENTRAL HYPOVENTILATION
STEREOTYPE (PRESENT IN SLEEP)
FACIAL DYSKINESIA
LIMB/TRUNK DYSKINESIA
PSYCHOSIS PRESENTATION
SYDENHAM LIKE PRESENTATION
FEVER/ HEADACHE/ VOMITING
POST HSV/ VZV INFECTION
NEOPLASIA:
OVARY/ BREAST
SMALL CELL LUNG CARCINOMA
LGI1 AB
FACIOBRACHIAL DYSTONIC SEIZURES
DROP/ ATONIC ATTACKS
HYPONATREMIA
EPISODIC BRADYCARDIA
SATOYOSHI SYNDROME
ANA POSITIVE
PAINFUL SPASMS
PERIPHERAL NERVE HYPEREXCITABILITY
FASCICULATIONS/ MYOKYMIA
ALOPECIA/ ENDOCRINOPATHY
DIARRHOEA
SKIN
AICARDI GOUTIERES DISEASE
(AGS 17 / TREX1/IFIH1)
CHILBLAINS
ENCEPHALOPATHY
GENERALIZED DYSTONIA
MRI: SYMMETRICAL BASAL GANGLIA
AND BRAIN CALCIFICATIONS
RX: STN DBS MAY BEUSEFUL