Ataxia, and Spasticity

Diseases related with Ataxia and Spasticity

In the following list you will find some of the most common rare diseases related to Ataxia and Spasticity that can help you solving undiagnosed cases.


Top matches:

Medium match BENIGN FAMILIAL NEONATAL EPILEPSY


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

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Low match LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11


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}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11

Low match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7


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

Related symptoms:

  • Seizures
  • Ataxia
  • Tremor
  • Cerebellar atrophy
  • Myoclonus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 7

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Other less relevant matches:

Low match MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION; MLC2B


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 ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2B, REMITTING, WITH OR WITHOUT MENTAL RETARDATION; MLC2B

Low match HEREDITARY CONTINUOUS MUSCLE FIBER ACTIVITY


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.

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about HEREDITARY CONTINUOUS MUSCLE FIBER ACTIVITY

Low match SPINOCEREBELLAR ATAXIA TYPE 40


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

Related symptoms:

  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Gait ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 40

Low match CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9


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 ).

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Microcephaly
  • Ataxia
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 9; CDCBM9

Low match MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MENTAL RETARDATION, AUTOSOMAL DOMINANT 46; MRD46

Low match MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A


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 ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MEGALENCEPHALIC LEUKOENCEPHALOPATHY WITH SUBCORTICAL CYSTS 2A; MLC2A

Low match ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME


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.

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ENDOSTEAL SCLEROSIS-CEREBELLAR HYPOPLASIA SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Spasticity

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Ataxia and Spasticity. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Cerebellar atrophy

Rare Symptoms - Less than 30% cases


Cerebral atrophy Cerebellar hypoplasia Microcephaly Macrocephaly Unsteady gait Hyperreflexia Diffuse swelling of cerebral white matter Diffuse white matter abnormalities Megalencephaly Leukoencephalopathy Abnormality of the cerebral white matter Gait ataxia Motor delay Abnormality of movement Mental deterioration Epileptic encephalopathy Tetraplegia Spastic tetraplegia Pachygyria Postnatal microcephaly Hypoplasia of the brainstem Cortical dysplasia Hypertonia Absent speech Encephalopathy Muscular hypotonia of the trunk Absence seizures Hypsarrhythmia Hypoplasia of the corpus callosum Ventriculomegaly Progressive cerebellar ataxia Progressive neurologic deterioration Motor deterioration Short stature Growth delay Nystagmus Strabismus Congenital hip dislocation Myopia Pontocerebellar atrophy Functional motor deficit Type 1 muscle fiber predominance Clumsiness Myoclonus CNS hypomyelination Leukodystrophy Abnormality of the nervous system Elevated serum creatine phosphokinase Congenital diaphragmatic hernia Spastic gait EMG abnormality Slurred speech Hypogonadism Autism Cognitive impairment Neurological speech impairment Dysmetria Abnormality of the dentition Intention tremor Broad-based gait Paraparesis Spastic paraparesis Dysdiadochokinesis Scanning speech Vertical supranuclear gaze palsy Oligodontia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Dysarthria and Congenital cataract, related diseases and genetic alterations Hepatomegaly and Retinal dystrophy, related diseases and genetic alterations Optic atrophy and Carious teeth, related diseases and genetic alterations Spasticity and Inflammation of the large intestine, related diseases and genetic alterations Micrognathia and Omphalocele, related diseases and genetic alterations

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