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
​