Cognitive impairment, and Progressive cerebellar ataxia

Diseases related with Cognitive impairment and Progressive cerebellar ataxia

In the following list you will find some of the most common rare diseases related to Cognitive impairment and Progressive cerebellar ataxia that can help you solving undiagnosed cases.


Top matches:

Medium match SPINOCEREBELLAR ATAXIA TYPE 32


Spinocerebellar ataxia type 32 (SCA32) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, cognitive impairment and azoospermia in males.

SPINOCEREBELLAR ATAXIA TYPE 32 Is also known as cerebellar ataxia with azoospermia and intellectual disability|sca32

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Cerebellar atrophy
  • Infertility
  • Progressive cerebellar ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 32

Medium 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

Medium match SPINOCEREBELLAR ATAXIA 15; SCA15


SCA15 is an autosomal dominant, adult-onset, very slowly progressive form of cerebellar ataxia. Most patients also have disabling action and postural tremor, and some have pyramidal tract affection, dorsal column involvement, and gaze palsy. Brain imaging shows cerebellar atrophy mainly affecting the vermis (summary by Synofzik et al., 2011).Heterozygous mutation in the ITPR1 gene can also cause SCA29 (OMIM ), which is distinguished by onset in infancy of delayed motor development followed by nonprogressive ataxia and mild cognitive impairment.Autosomal dominant 'pure' cerebellar ataxia, classified as ADCA type III by {3,4:Harding (1983, 1993)}, is a genetically heterogeneous disorder (see, e.g., {117210}).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 15; SCA15 Is also known as sca16, formerly|spinocerebellar ataxia 16, formerly

Related symptoms:

  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Motor delay
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 15; SCA15

Mendelian

Too many results?
We can help you with your rare disease diagnosis.

Learn more

Other less relevant matches:

Medium match EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B


Related symptoms:

  • Seizures
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria
  • Tremor


SOURCES: MESH OMIM MENDELIAN

More info about EPILEPSY, PROGRESSIVE MYOCLONIC, 1B; EPM1B

Medium match SPINOCEREBELLAR ATAXIA TYPE 4


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

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 4

Medium 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

Medium match SPINOCEREBELLAR ATAXIA TYPE 14


Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus.

SPINOCEREBELLAR ATAXIA TYPE 14 Is also known as sca14

Related symptoms:

  • Generalized hypotonia
  • Cognitive impairment
  • Dysarthria
  • Tremor
  • Myoclonus


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 14

Medium match SPINOCEREBELLAR ATAXIA TYPE 21


Spinocerebellar ataxia type 21 (SCA21) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive cerebellar ataxia, mild cognitive impairment, postural and/or resting tremor, bradykinesia, and rigidity.

SPINOCEREBELLAR ATAXIA TYPE 21 Is also known as sca21

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 21

Medium match SPINOCEREBELLAR ATAXIA TYPE 23


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

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 23

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.

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET LAFORA BODY DISEASE

Top 5 symptoms//phenotypes associated to Cognitive impairment and Progressive cerebellar ataxia

Symptoms // Phenotype % cases
Ataxia Very Common - Between 80% and 100% cases
Dysarthria Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Limb ataxia Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

Patients with Cognitive impairment and Progressive cerebellar ataxia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Gait ataxia Seizures Myoclonus Babinski sign Cerebellar vermis atrophy Dysmetria Dementia Peripheral neuropathy Action tremor Sensory neuropathy Hyperreflexia Mental deterioration

Rare Symptoms - Less than 30% cases


Impaired proprioception Motor deterioration Impaired vibratory sensation Abnormal pyramidal sign Hyporeflexia Slow saccadic eye movements Sensory axonal neuropathy Generalized myoclonic seizures Behavioral abnormality Intellectual disability Rigidity Spasticity Abnormality of movement Gaze-evoked nystagmus Motor delay Scanning speech Head tremor Nystagmus Impaired smooth pursuit Postural tremor Agenesis of corpus callosum Parkinsonism Spastic ataxia Microsaccadic pursuit Abnormality of extrapyramidal motor function Intermittent microsaccadic pursuits Cogwheel rigidity Dysgraphia Fasciculations Resting tremor Akinesia Clumsiness Diplopia Apathy Paranoia Impulsivity Sensorimotor neuropathy Pes cavus Falls Hallucinations Frequent falls Psychosis Spastic tetraplegia Urinary incontinence Tetraplegia Spastic tetraparesis Confusion Abnormality of eye movement Mutism Impaired distal vibration sensation Kinetic tremor CNS demyelination Impaired vibration sensation in the lower limbs Peripheral demyelination Neuronal loss in central nervous system Polyneuropathy Ophthalmoplegia Ventriculomegaly Aggressive behavior Limb tremor Areflexia Gait disturbance Muscle weakness Atonic seizures Generalized tonic-clonic seizures Difficulty walking Cerebellar hypoplasia Gaze-evoked horizontal nystagmus Distal sensory impairment Dysmetric saccades Truncal ataxia Intention tremor Testicular atrophy Male infertility Azoospermia Infertility Poor speech Motor axonal neuropathy Intellectual disability, severe Diffuse swelling of cerebral white matter Neoplasm Global developmental delay Abnormality of the Achilles tendon Saccadic smooth pursuit Hyporeflexia of lower limbs Sensory impairment Generalized hypotonia Diffuse white matter abnormalities Absent Achilles reflex Megalencephaly Leukoencephalopathy Progressive neurologic deterioration Abnormality of the cerebral white matter Cerebral atrophy Macrocephaly Impaired tactile sensation Limb dysmetria Lafora bodies



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Neuroblastoma and Generalized tonic-clonic seizures, related diseases and genetic alterations Delayed speech and language development and Retinal dystrophy, related diseases and genetic alterations Brachydactyly and Schizophrenia, related diseases and genetic alterations Hydrocephalus and Jaundice, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more