PALATAL MYOCLONUS
CORTICAL/ SUBCORTICAL
PROGRESSIVE ATAXIA PALATAL
TREMOR SYNDROME (PAPT)
SPORADIC
MRI: HYPERTROPHIC OLIVARY DEGENERATION
FAMILIAL
ALEXANDER DISEASE (GFAP)
CHILDHOOD TILL LATE ADULTHOOD
BRAIN STEM SIGNS
DYSARTHRIA/ DYSPHONIA
PARKINSONISM/ ATAXIA
AUTONOMIC DYSFUNCTION
MRI: BRAINSTEM AND CERVICAL CORD ATROPHY
MULTIPLE SCLEROSIS
BRAIN STEM LESIONS
BASAL GANGLIA
NEUROFERRITINOPATHY
ORO-MANDIBULAR DYSKINESIA (85%)
JAW DYSTONIA/ BLEPHAROSPASM
FOCAL LOWER LIMB CHOREA /DYSTONIA
ACUTE BALLISMUS
LESS COMMON: ATAXIA/ PARKINSONISM/ TICS/TREMOR
LIP-SMACKING/ WRITER'S CRAMP
FRONTAL SUBCORTICAL COGNITIVE DYSFUNCTION
GM2 GANGLIOSIDOSIS (TAY SACH)
DEMENTIA-SEIZURES
ATAXIA-PARKINSONISM
PROGRESSIVE MYOCLONUS ATAXIA
SLOW MND/ SPASTICITY
STIMULUS SENSITIVE MYOCLONUS
CHERRY-RED SPOT FUNDUS
LATE ONSET: MILD SYMPTOMS IN 6-7 DECADE
CEREBELLUM/ TRACTS
SCA20
SPASMODIC DYSPHONIA
PALATAL TREMOR (60%)
MRI: DENTATE CALCIFICATION
ION HYPERINTENSITY
CEREBROTENDINOSIS XANTHOMATOSIS
VARIABLE AGE OF PRESENTATION
COGNITIVE DECLINE
ATAXIA/ DYSTONIA/ PARKINSONISM
SPASTICITY/ NEUROPATHY
CATARACT/ PES CAVUS/ DIARRHOEA
XANTHOMAS ACHILLES TENDON
MRI: T2/ FLAIR HYPERINTENSITIES
PERIVENTRICULAR
POSTERIOR LIMB INTERNAL CAPSULE
CEREBRAL PEDUNCLES
ANTERIOR PONS
RX: CHENODEOXYCHOLIC ACID 250MG TID
POLG1
ATAXIA/ PARKINSONISM/ CPEO
OPTIC ATROPHY/ CATARACT
PES CAVUS/ NEUROPATHY
SPINAL CORD/ TRACTS
SPG7
ATAXIA/ PARKINSONISM
OPHTHALMOPARESIS
AMYOTROPHY
CASPR2 AB
EPISODIC ATAXIA
NEUROMYOTONIA/ MYOKYMIA
LOWER LIMB ACTION MYOCLONUS
SEGMENTAL/ PROPRIOSPINAL MYOCLONUS
RARELY PALATAL TREMOR
SMALL CELL CARCINOMA LUNG
THYMOMA
AUTOIMMUNE
KELCH-LIKE 11 AB
PALATAL MYOCLONUS
ATAXIA/ OSCILLOPSIA/ VERTIGO
CELIAC DISEASE
ATAXIA/ LEG MYOCLONUS
NEUROPATHY/ DIARRHOEA
GOBBI SYNDROME: CEC SYNDROME
CELIAC DISEASE/ SEIZURES/ BILATERAL
MRI: OCCIPITAL CALCIFICATIONS
LAB: ANTI-TTG ANTIBODIES
OCULOPALATAL MYOCLONUS (OPM)
LOCALIZATION:
GUILLAIN MOLLARET TRIANGLE
OLIVARY NUCLEUS HYPERTROPHY
CTT LESION
SIMILAR ETIOLOGIES FOR
PENDULAR NYSTAGMUS &
MYORHYTHMIA
ALEXANDER DISEASE (GFAP)
AGE OF ONSET <70YRS
BRAIN STEM SIGNS
DYSARTHRIA/ DYSPHONIA
AUTONOMIC DYSFUNCTION
PARKINSONISM/ ATAXIA
PELIZAEUS MERZBACHER (PLP1)
SPASTIC ATAXIA
SPG2: PURE SPASTIC PARAPARESIS
MULTIFOCAL DEMYELINATING NEUROPATHY
COGNITION/ TITUBATION
DYSTONIA/ CHOREA OF EXTREMITIES
HEAD AND UPPER LIMB TREMOR
SURVIVAL TILL LATE ADULTHOOD
MRI: HYPOMYELINATION
INTERNAL CAPSULE/ OPTIC RADIATION
PROXIMAL CORONAL RADIATA
CEREBELLAR ATROPHY
MULTIPLE SCLEROSIS
WHIPPLE
OCULOMASTICATORY MYORHYTHMIA
OCULO-FACIAL-SKELETAL MYORHYTHMIA
UPPER LIMB/ GENERALIZED
ARTHRALGIA/ DIARRHOEA
LAB: PCR IN CSF AND SALIVA
RX: DOXYCYCLINE/ HCQS
GM2 GANGLIOSIDOSIS (TAY SACH)
DEMENTIA-SEIZURES
ATAXIA-PARKINSONISM
PROGRESSIVE MYOCLONUS ATAXIA
SLOW MND/ SPASTICITY
STIMULUS SENSITIVE MYOCLONUS
CHERRY-RED SPOT FUNDUS
LATE ONSET: MILD SYMPTOMS IN 6-7 DECADE
H-ABC/ DYT4 (TUBB4)
HYPOMYELINATION WITH ATROPHY OF BASAL GANGLIA NAD CEREBELLUM
DYSTONIA/ ATAXIA/ COGNITION
WHISPERING DYSPHONIA
MICROCEPHALY/ SPASTICITY
SARCOIDOSIS
HYPERCALCAEMIA
INCREASE SERUM ACE LEVEL
ABNORMAL X-RAY CHEST
STROKE
ACUTE ONSET
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FACIAL MYOCLONUS
ADCY5
ACTION FACIAL MYOCLONUS
EPISODIC WORSENING BY STRESS, ANXIETY
AND BEFORE OR AFTER SLEEP
PAROXYSMAL EPISODES IN EARLY DISEASE
HEMIFACIAL SPASM
PERSISTS IN SLEEP
MYOCLONUS
GABAPENTIN
FACIAL MYOCLONUS
SEEN IN CKD
AMANTADINE
OROFACIAL MYOCLONUS
CORTICAL LESIONS
INVOLVING FACE MOTOR CORTEX
UPPER LIMB
KCNN2 MUTATIONS
COGNITION/AUTISM
ATAXIA/DYSTONIA/ PARKINSONISM
DISTAL MYOCLONUS (TREMOR LIKE)
DYT11 (SGCE)
AGE OF ONSET <20 YRS
HEAD/ ARM/ UPPER BODY
OCD/ ANXIETY
RX: CLONAZEPAM/ VALPROIC ACID
TRIHEXYPHENIDYL
THALAMIC DBS
DYT15
MYOCLONUS DYSTONIA
GENE PRESENT ON 18P CHROMOSOME
GNAL
AGE OF ONSET >20 YRS
CERVICAL/ CRANIAL
OROMANDIBULAR/ LARYNX
TREMOR
ANO3
ESSENTIAL TREMOR PHENOTYPE
CERVICAL DYSTONIA
FAST MYOCLONUS
DiGEORGE SYNDROME
(22q11.2 DELETION)
ELONGATED FACE/ CLEFT PALATE
PARKINSONISM/ DYSTONIA-MYOCLONUS
EPISODIC SPASMS
HYPOCALCEMIA
CORTICOBASAL SYNDROME
APRAXIA/ APHASIA/ PARKINSONISM
CORTICAL MYOCLONUS
MOTOR CORTEX LESIONS
OPSOMYOCLONUS ATAXIA
NEUROBLASTOMA
CHILDREN
LAB: URINE VMA/ METANEPHRINE
RI AB
AGE OF ONSET >40YRS
SUBACUTE ONSET PARKINSONISM
PSP PHENOTYPE
OCULOPALATAL-MYOCLONUS
NEOPLASIA: BREAST/ OVARY
GAD AB
PHENOTYPE
ATAXIA/ PARKINSONISM/ PSP
STIFF PERSON SYNDROME
STARTLE MYOCLONUS/ PERM
HEAD RETRACTION JERK
OPSOCLONUS-MYOCLONUS
ORTHOSTATIC TREMOR
LIMBIC ENCEPHALITIS/ MTLE
ABNORMAL SACCADES
VELOCITY/LATENCY/ACCURACY
SACCADE INITIATION/ EARLY UPGAZE PALSY
NYSTAGMUS
DOWN/ UPBEAT NYSTAGMUS
PERIODIC ALTERNATING NYSTAGMUS
FLUTTER/OPSOCLONUS/ STIFF EYES
>50YRS: 8%+VE GAD POSITIVE
NMDA AB
MUTISM/ AUTONOMIC DYSFUNCTION
CENTRAL HYPOVENTILATION
STEREOTYPE (PRESENT IN SLEEP)
FACE DYSKINESIA
LIMB/TRUNK DYSKINESIA
PSYCHOSIS PRESENTATION
FEVER/ HEADACHE/ VOMITING
POST HSV/ VZV INFECTION
NEOPLASIA: OVARY/ BREAST
SMALL CELL LUNG CARCINOMA
GABA-B RECEPTOR AB
SEIZURES/ MYORHYTHMIA
GLYCINE-RECEPTOR AB
HYPEREKPLEXIA/ PERM
LEG MYOCLONUS
CORTICOBASAL SYNDROME
APRAXIA/ APHASIA/ PARKINSONISM
CELIAC DISEASE
ATAXIA/ LEG MYOCLONUS
NEUROPATHY/ DIARRHOEA
GOBBI SYNDROME: CEC SYNDROME
CELIAC DISEASE/ SEIZURES/ BILATERAL
MRI: OCCIPITAL CALCIFICATIONS
LAB: ANTI-TTG ANTIBODIES
MITOCHONDRIAL
ATAXIA/ NEUROPATHY
ANOXIC
LEG MYOCLONUS
ACTION MYOCLONUS
CASPR2 AB
EPISODIC ATAXIA
NEUROMYOTONIA/ MYOKYMIA
LOWER LIMB ACTION MYOCLONUS
SEGMENTAL/ PROPRIOSPINAL MYOCLONUS
RARELY PALATAL TREMOR
SMALL CALL CARCINOMA LUNG
THYMOMA
HYPEREKPLEXIA
EYE BLINK/ FLEXOR SPASM
EXAGGERATED HEAD RETRACTION REFLEX
TAP ON GLABELLA/ NOSE/ UPPER LIP
ASSOCIATED FEATURES:
1. HEAD RETRACTION
2. PERIODIC LIMB MOVEMENTS
3. HYPNAGOGIC MYOCLONUS
HEREDITARY (GLRA1/ GLRB/SLC6A5)
AUTOSOAL DOMINANT
AUTOSOMAL RECESSIVE
PRIMARY
GLYCINE RECEPTOR ALPHA MUTATION
PERM SYNDROME
GAD/ GLYCINE-RECEPTOR/ DPPX6 AB
LIMB OR AXIAL PAINFUL SPASMS
RIGIDITY/ NYSTAGUS/ OPSOCLONUS
CORTICAL MYOCLONUS/ STARTLE
DEAFNESS/ OPHTHALMOPARESIS
DYSARTHRIA
APNEA/ HYPERSOMNOLENCE
ASSOCIATED WITH THYMOMA
LAB: CSF PLEOCYTOSIS
STIFF PERSON SYNDROME
SECONDARY
METACHROMATIC LEUKODYSTROPHY
GM2 GANGLIOSIDOSIS (TAY SACH)
DEMENTIA-SEIZURES
ATAXIA-PARKINSONISM
PROGRESSIVE MYOCLONUS ATAXIA
SLOW MND/ SPASTICITY
STIMULUS SENSITIVE MYOCLONUS
CHERRY-RED SPOT FUNDUS
LATE ONSET: MILD SYMPTOMS IN 6-7 DECADE
BRAINSTEM ENCEPHALITIS
TETANUS
STRYCHNINE POISONING
POST ANOXIC
MEDULLARY COMPRESSION
POSTERIOR FOSSA MALFORMATION
MSA
MULTIPLE SCLEROSIS
STARTLE EPILEPSY
PAROXYSMAL DYSTONIA (PRRT2)
STARTLE IS TRIGGER
CJD
SSPE
KELCH LIKE AB
POST INFECTIOUS
CULTURE SPECIFIC SYNDROMES
AUDITORY/ SENSORY/ VISUAL STIMULUS
JUMPS/ EXOPRAXIA/ ECOLALIA
RETICULAR MYOCLONUS
ANOXIA
URAEMIA
VERTEBRAL ARTERY DOLICHOECTASIA