Ataxia, and Spasticity

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

Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

• Intellectual disability
• Global developmental delay
• Ataxia
• Spasticity
• Myopia

SOURCES: OMIM MENDELIAN

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

Autosomal dominant remitting MLC2B is characterized by infantile-onset of macrocephaly and mildly delayed motor development associated with white matter abnormalities on brain MRI that improve with age. As children, some patients have mild residual hypotonia or clumsiness, but otherwise have no residual motor abnormalities. About 40% of patients have mental retardation (summary by van der Knaap et al., 2010 and Lopez-Hernandez et al., 2011).Homozygous or compound heterozygous mutations in the HEPACAM gene can cause a more severe and progressive disorder associated with ataxia, spasticity, and mental retardation (MLC2A ).For a discussion of genetic heterogeneity of megalencephalic leukoencephalopathy with subcortical cysts, see MLC1 (OMIM ).

• Intellectual disability
• Generalized hypotonia
• Ataxia
• Spasticity
• Motor delay

SOURCES: OMIM MENDELIAN

Hereditary continuous muscle fiber activity is a rare, non-dystrophic myopathy characterized by generalized myokymia and increased muscle tone associated with delayed motor milestones, leg stiffness, spastic gait, hyperreflexia and Babinski sign. Symptoms may be worsened by febrile illness or anesthesia.

• Seizures
• Ataxia
• Dysarthria
• Elevated serum creatine phosphokinase
• Abnormality of movement

SOURCES: ORPHANET MENDELIAN

Spinocerebellar ataxia type 40 (SCA40) is a very rare subtype of autosomal dominant cerebellar ataxia type 1, characterized by the adult-onset of unsteady gait and dysarthria, followed by wide-based gait, gait ataxia, ocular dysmetria, intention tremor, scanning speech, hyperreflexia and dysdiadochokinesis.

SPINOCEREBELLAR ATAXIA TYPE 40 Is also known as sca40

• Ataxia
• Hyperreflexia
• Dysarthria
• Tremor
• Gait ataxia

SOURCES: ORPHANET OMIM MENDELIAN

Complex cortical dysplasia with other brain malformations-9 is a severe autosomal recessive disorder characterized by profoundly impaired motor and cognitive development apparent from early infancy. Affected individuals develop intractable seizures and are unable to speak or ambulate. Brain imaging shows pachygyria as well as hypogenesis of the corpus callosum and other variable brain abnormalities. The phenotype results from impaired cortical neuronal migration (summary by Schaffer et al., 2018).For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (OMIM ).

• Seizures
• Generalized hypotonia
• Microcephaly
• Ataxia
• Hyperreflexia

SOURCES: OMIM MENDELIAN

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

SOURCES: OMIM MENDELIAN

Megalencephalic leukoencephalopathy with subcortical cysts-2A is an autosomal recessive neurodegenerative disorder characterized by infantile-onset macrocephaly and later onset of motor deterioration, with ataxia and spasticity, seizures, and cognitive decline of variable severity. Brain MRI shows typical white matter abnormalities, including swelling of the cerebral white matter and subcortical cysts, in all stages of the disease (summary by Lopez-Hernandez et al., 2011).Heterozygous mutations in the HEPACAM gene can cause a similar, but less severe disorder that shows improvement of MRI changes with age (MLC2B ).

• Intellectual disability
• Seizures
• Ataxia
• Spasticity
• Motor delay

SOURCES: OMIM MENDELIAN

Endosteal sclerosis-cerebellar hypoplasia syndrome is characterized by congenital cerebellar hypoplasia, endosteal sclerosis, hypotonia, ataxia, mild to moderate developmental delay, short stature, hip dislocation, and tooth eruption disturbances. It has been described in four patients. Less common manifestations are microcephaly, strabismus, nystagmus, optic atrophy, and dysarthria. It is appears to be transmitted as an autosomal recessive trait.

• Global developmental delay
• Short stature
• Generalized hypotonia
• Microcephaly
• Ataxia

SOURCES: MESH ORPHANET OMIM MENDELIAN