Ataxia, and Depressivity

Diseases related with Ataxia and Depressivity

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


Top matches:

Medium match HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS


Huntington disease-like syndrome due to C9ORF72 expansions is a rare, genetic neurodegenerative disease characterized by movement disorders, including dystonia, chorea, myoclonus, tremor and rigidity. Associated features are also cognitive and memory impairment, early psychiatric disturbances and behavioral problems.

HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS Is also known as c9orf72-related huntington disease phenocopy|c9orf72-related huntington disease-like syndrome|huntington disease phenocopy due to c9orf72 expansions

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Tremor
  • Dystonia
  • Depressivity


SOURCES: ORPHANET MENDELIAN

More info about HUNTINGTON DISEASE-LIKE SYNDROME DUE TO C9ORF72 EXPANSIONS

Medium match ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2


Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012).For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2

Medium match CLN13 DISEASE


Neuronal ceroid lipofuscinosis-13 is an autosomal recessive neurodegenerative disorder characterized by adult onset of progressive cognitive decline and motor dysfunction leading to dementia and often early death. Some patients develop seizures. Neurons show abnormal accumulation of autofluorescent material (summary by Smith et al., 2013).Adult-onset neuronal ceroid lipofuscinosis is sometimes referred to as Kufs disease.For a discussion of genetic heterogeneity of neuronal ceroid lipofuscinosis (CLN), see CLN1 (OMIM ).

CLN13 DISEASE Is also known as ceroid lipofuscinosis, neuronal, 13, kufs type

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about CLN13 DISEASE

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Other less relevant matches:

Medium match TREMOR, HEREDITARY ESSENTIAL, 1; ETM1


Essential tremor may be the most common human movement disorder. The main feature of essential tremor is postural tremor of the arms, but the head, legs, trunk, voice, jaw, and facial muscles also may be involved. Aggravated by emotions, hunger, fatigue, and temperature extremes, the condition may cause a functional disability or even incapacitation. Autosomal dominant inheritance can be demonstrated in most families (summary by Higgins et al., 1997).Deng et al. (2007) provided a detailed review of the genetics of essential tremor. Genetic Heterogeneity of Essential TremorOther forms of hereditary essential tremor include ETM2 (OMIM ), mapped to chromosome 2p25-p22; ETM3 (OMIM ), mapped to chromosome 6p23; ETM4 (OMIM ), caused by mutation in the FUS gene (OMIM ) on chromosome 16p11; and ETM5 (OMIM ), caused by mutation in the TENM4 gene (OMIM ) on chromosome 11q14.

TREMOR, HEREDITARY ESSENTIAL, 1; ETM1 Is also known as fet1|tremor, familial essential, 1

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cognitive impairment
  • Dysarthria
  • Fever


SOURCES: OMIM MENDELIAN

More info about TREMOR, HEREDITARY ESSENTIAL, 1; ETM1

Medium match UNVERRICHT-LUNDBORG DISEASE


Unverricht-Lundborg disease (ULD) is a rare progressive myoclonic epilepsy disorder characterized by action- and stimulus-sensitive myoclonus, and tonic-clonic seizures with ataxia, but with only a mild cognitive decline over time.

UNVERRICHT-LUNDBORG DISEASE Is also known as uld|progressive myoclonus epilepsy type 1|epm1a|baltic myoclonic epilepsy|epm1|epilepsy, progressive myoclonic, 1|progressive myoclonic epilepsy|epilepsy, progressive myoclonic, 1a|progressive myoclonic epilepsy type 1|pme|pme type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Cognitive impairment
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about UNVERRICHT-LUNDBORG DISEASE

Medium match SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES


Related symptoms:

  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Cerebral atrophy
  • Depressivity


SOURCES: MESH OMIM MENDELIAN

More info about SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES

Medium match SPINOCEREBELLAR ATAXIA TYPE 28


Spinocerebellar ataxia type 28 (SCA28) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by juvenile onset, slowly progressive cerebellar ataxia due to Purkinje cell degeneration.

SPINOCEREBELLAR ATAXIA TYPE 28 Is also known as sca28

Related symptoms:

  • Ataxia
  • Nystagmus
  • Spasticity
  • Ptosis
  • Cognitive impairment


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 28

Medium match SPINOCEREBELLAR ATAXIA 12; SCA12


Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 12; SCA12

Medium match HUNTINGTON DISEASE-LIKE 2


Huntington disease-like 2 (HDL2) is a severe neurodegenerative disorder considered part of the neuroacanthocytosis syndromes (see this term) characterized by a triad of movement, psychiatric, and cognitive abnormalities.

HUNTINGTON DISEASE-LIKE 2 Is also known as hdl2

Related symptoms:

  • Seizures
  • Ataxia
  • Hyperreflexia
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about HUNTINGTON DISEASE-LIKE 2

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5


PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5 Is also known as progressive external ophthalmoplegia, autosomal dominant 5

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Ptosis
  • Dysarthria
  • Fatigue


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 5; PEOA5

Top 5 symptoms//phenotypes associated to Ataxia and Depressivity

Symptoms // Phenotype % cases
Dysarthria Very Common - Between 80% and 100% cases
Anxiety Common - Between 50% and 80% cases
Dementia Common - Between 50% and 80% cases
Parkinsonism Common - Between 50% and 80% cases
Cognitive impairment Common - Between 50% and 80% cases
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Other less frequent symptoms

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

Common Symptoms - More than 50% cases


Rigidity

Uncommon Symptoms - Between 30% and 50% cases


Dystonia Memory impairment Tremor Gait disturbance Personality changes Seizures Cerebral atrophy Hyperreflexia Abnormality of movement Mental deterioration Neurodegeneration Abnormality of eye movement Abnormality of extrapyramidal motor function Cerebellar atrophy Gait ataxia Head tremor Myoclonus Chorea Delusions

Rare Symptoms - Less than 30% cases


Babinski sign Action tremor Fatigue Hearing impairment Primitive reflex Limb ataxia Postural tremor Ptosis Neuronal loss in central nervous system Cerebral cortical atrophy Abnormality of the eye Intellectual disability Generalized tonic-clonic seizures Apathy Ophthalmoparesis Dysphagia Hallucinations Migraine Behavioral abnormality Kinetic tremor Generalized hypotonia Ophthalmoplegia Nystagmus Lower limb hyperreflexia Spasticity Gaze-evoked nystagmus Dysmetria Limb dystonia Progressive cerebellar ataxia Hypertonia Slow saccadic eye movements Peripheral neuropathy Sensorimotor neuropathy Dysmetric saccades Irritability Dysdiadochokinesis Caudate atrophy Increased muscle fatiguability Progressive external ophthalmoplegia Bilateral ptosis External ophthalmoplegia Exercise intolerance Glaucoma Hyporeflexia Myopathy Abnormality of the cerebrum Abnormal corpus striatum morphology Functional motor deficit Spinocerebellar tract degeneration Acanthocytosis Involuntary movements Bradykinesia Falls Hyperorality Weight loss Facial myokymia Limb tremor Axial dystonia Myokymia Violent behavior Absence seizures Paranoia Choreoathetosis Emotional lability Focal-onset seizure Dyskinesia Muscular hypotonia of the trunk Episodic quadriplegia Loss of consciousness Hemiplegia Abnormal autonomic nervous system physiology Hemiparesis Frontal release signs Tetraparesis Status epilepticus Generalized-onset seizure Tetraplegia Headache Global developmental delay Inappropriate behavior Upper motor neuron dysfunction Psychosis Diffuse cerebral atrophy Fever Auditory hallucinations Lafora bodies Bowel incontinence Impulsivity Mutism Stereotypy Urinary incontinence Gliosis Abnormal cerebellum morphology Aggressive behavior Encephalopathy Morning myoclonic jerks Hypoglycemia Giant somatosensory evoked potentials EEG with polyspike wave complexes Olivopontocerebellar atrophy Muscle fibrillation Cutaneous photosensitivity Intention tremor Poor speech Hand tremor Resting tremor Multiple mitochondrial DNA deletions



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