Ataxia, and Generalized myoclonic seizures

Medium match CLN11 DISEASE

Neuronal ceroid lipofuscinosis-11 is an autosomal recessive neurologic disorder characterized by rapidly progressive visual loss due to retinal dystrophy, seizures, cerebellar ataxia, and cerebellar atrophy. Cognitive decline may also occur (summary by Smith et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

• Seizures
• Ataxia
• Visual impairment
• Optic atrophy
• Cerebellar atrophy

SOURCES: ORPHANET OMIM MENDELIAN

Medium match MENTAL RETARDATION, AUTOSOMAL DOMINANT 55, WITH SEIZURES; MRD55

• Intellectual disability
• Seizures
• Global developmental delay
• Ataxia
• Delayed speech and language development

SOURCES: OMIM MENDELIAN

Medium match BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY

Benign adult familial myoclonic epilepsy (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal seizures with a non-progressive or very slowly progressive disease course, and no signs of early dementia or cerebellar ataxia.

BENIGN ADULT FAMILIAL MYOCLONIC EPILEPSY Is also known as adcme|bafme|benign adult familial myoclonic epilepsy 1|autosomal dominant cortical myoclonus and epilepsy|fame|cortical myoclonic tremor with epilepsy, familial, 1|familial adult myoclonic epilepsy|benign adult familial myoclonus epilepsy|familial cortica

• Intellectual disability
• Seizures
• Ataxia
• Tremor
• Headache

SOURCES: OMIM MESH ORPHANET MENDELIAN

Medium match EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B

• Seizures
• Ataxia
• Peripheral neuropathy
• Dysarthria
• Tremor

SOURCES: MESH OMIM MENDELIAN

Medium match NEURODEVELOPMENTAL DISORDER WITH EPILEPSY AND HYPOPLASIA OF THE CORPUS CALLOSUM; NEDEHCC

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Tremor

SOURCES: OMIM MENDELIAN

Medium match MYOCLONIC-ASTASTIC EPILEPSY

Myoclonic Astatic Epilepsy (MAE) is a rare epilepsy syndrome of childhood characterized by the occurrence of multiple different seizure types including myoclonic-astatic, generalized tonic-clonic and absence seizures, usually in previously healthy children.

MYOCLONIC-ASTASTIC EPILEPSY Is also known as mae|emas|myoclonic atonic epilepsy|doose syndrome|epilepsy with myoclonic-astatic seizures|myoclonic-astatic epilepsy in early childhood|epilepsy with myoclonic-atonic seizures

• Intellectual disability
• Seizures
• Global developmental delay
• Scoliosis
• Ataxia

SOURCES: ORPHANET OMIM MENDELIAN

Medium match FAMILIAL INFANTILE MYOCLONIC EPILEPSY

FAMILIAL INFANTILE MYOCLONIC EPILEPSY Is also known as fime|eim|familial infantile myoclonus epilepsy

• Intellectual disability
• Seizures
• Global developmental delay
• Ataxia
• Dysarthria

SOURCES: OMIM ORPHANET MENDELIAN

Medium match DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM

DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by Hamdan et al., 2017).

• Intellectual disability
• Seizures
• Global developmental delay
• Short stature
• Generalized hypotonia

SOURCES: OMIM MENDELIAN

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

EIEE52 is an autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities (summary by Patino et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

• Intellectual disability
• Seizures
• Global developmental delay
• Generalized hypotonia
• Ataxia

SOURCES: OMIM MENDELIAN

Medium match EARLY-ONSET LAFORA BODY DISEASE

Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.

• Seizures
• Ataxia
• Spasticity
• Hyperreflexia
• Dysarthria

SOURCES: ORPHANET OMIM MENDELIAN