Cognitive impairment, and Dysmetria

A rare, genetic, neurological disorder characterized by childhood to adolescent onset of progressive myoclonus (which becomes very severe and results in major motor impediment) associated with infrequent tonic-clonic seizures, and, occasionally, ataxia. Learning disability prior to seizure onset and mild cognitive decline may be associated.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7 Is also known as pme type 7|progressive myoclonus epilepsy type 7|epm7|myoclonus epilepsy and ataxia due to potassium channel mutation|meak|progressive myoclonic epilepsy due to kv3.1 deficiency

• Seizures
• Ataxia
• Tremor
• Cerebellar atrophy
• Myoclonus

SOURCES: ORPHANET OMIM MENDELIAN

Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

• Seizures
• Cognitive impairment
• Hypertonia

SOURCES: ORPHANET MENDELIAN

• Global developmental delay
• Ataxia
• Nystagmus
• Cognitive impairment
• Cerebellar hypoplasia

SOURCES: OMIM MENDELIAN

Spinocerebellar ataxia type 12 (SCA12) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by the presence of action tremor associated with relatively mild cerebellar ataxia. Associated pyramidal and extrapyramidal signs and dementia have been reported.

SPINOCEREBELLAR ATAXIA TYPE 12 Is also known as sca12

• Ataxia
• Cognitive impairment
• Hyperreflexia
• Gait disturbance
• Cerebellar atrophy

SOURCES: ORPHANET MENDELIAN

• Seizures
• Ataxia
• Peripheral neuropathy
• Dysarthria
• Tremor

SOURCES: MESH OMIM MENDELIAN

Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 4 Is also known as spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy|sca4

• Ataxia
• Muscle weakness
• Peripheral neuropathy
• Dysarthria
• Gait disturbance

SOURCES: OMIM ORPHANET MENDELIAN

SCA48 is an autosomal dominant neurodegenerative disorder characterized by onset of gait ataxia and/or cognitive-affective symptoms in mid-adulthood. Patients may present with involvement of either system, but most eventually develop impairment in both. Features include gait ataxia, dysarthria, and dysphagia, as well as anxiety and deficits in executive function. Brain imaging shows selective atrophy of the posterior areas of the cerebellar vermis (summary by Genis et al., 2018).

• Ataxia
• Dysarthria
• Dysphagia
• Cerebellar atrophy
• Gait ataxia

SOURCES: OMIM MENDELIAN

• Intellectual disability
• Global developmental delay
• Ataxia
• Nystagmus
• Cognitive impairment

SOURCES: OMIM MENDELIAN

Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.

SPINOCEREBELLAR ATAXIA TYPE 23 Is also known as sca23

• Ataxia
• Peripheral neuropathy
• Hyperreflexia
• Dysarthria
• Tremor

SOURCES: OMIM ORPHANET MESH MENDELIAN

Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement).

SPECTRIN-ASSOCIATED AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as infantile-onset spinocerebellar ataxia-psychomotor delay syndrome|cerebellar ataxia, autosomal recessive, spectrin-associated, 1|ataxie spinocÉrÉbelleuse À dÉbut infantile avec retard psychomoteur|spectrin-associated autosomal recessive cerebellar ataxia

• Intellectual disability
• Global developmental delay
• Ataxia
• Nystagmus
• Strabismus

SOURCES: ORPHANET OMIM MENDELIAN