Ataxia, and Fever

Diseases related with Ataxia and Fever

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


Top matches:

Low match DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM


DEDSM is a neurodevelopmental disorder characterized by global developmental delay, variable intellectual disability, and early-onset seizures with a myoclonic component. Most patients have delayed motor development and show abnormal movements, including ataxia, dystonia, and tremor (summary by Hamdan et al., 2017).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM MENDELIAN

More info about DEVELOPMENTAL DELAY AND SEIZURES WITH OR WITHOUT MOVEMENT ABNORMALITIES; DEDSM

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52


EIEE52 is an autosomal recessive seizure disorder characterized by infantile onset of refractory seizures with resultant delayed global neurologic development that causes intellectual disability and other persistent neurologic abnormalities (summary by Patino et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 52; EIEE52

Low 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

Mendelian

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

Learn more

Other less relevant matches:

Low match ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY


Acute inflammatory demyelinating polyradiculoneuropathy (AIDP) is an inflammatory neuropathy belonging to the clinical spectrum of Guillain-Barré syndrome (GBS; see this term).

ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY Is also known as guillain-barrÉ syndrome, acute inflammatory demyelinating polyradiculoneuropathic form|aidp|acute inflammatory polyneuropathy|acute idiopathic demyelinating polyneuropathy|gbs, acute inflammatory demyelinating polyradiculoneuropathic form

Related symptoms:

  • Generalized hypotonia
  • Hyporeflexia
  • Gait ataxia
  • Unsteady gait
  • Drooling


SOURCES: ORPHANET MENDELIAN

More info about ACUTE INFLAMMATORY DEMYELINATING POLYRADICULONEUROPATHY

Low match PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT


Women show menstrual cycle-dependent physiologic changes in relation to sex hormone levels. Because ovulation triggers a significant change in the hormonal milieu that is similar to local inflammation, a 0.5 to 1.0 degree Celsius increase in basal body temperature after ovulation is commonly associated with progesterone secretion and is believed to be triggered by the induction of several inflammatory cytokines. Rare menstrual cycle-dependent febrile episodes have been reported, some of which have shown a luteal-phase-dependent pattern (summary by Jiang et al., 2012).

Related symptoms:

  • Ataxia
  • Fever
  • Tremor
  • Myalgia
  • Lower limb muscle weakness


SOURCES: OMIM MENDELIAN

More info about PERIODIC FEVER, MENSTRUAL CYCLE-DEPENDENT

Low match PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6


A rare, genetic, neurological disorder characterized by early-onset, progressive ataxia associated with myoclonic seizures (frequently associated with other seizure types such as generalized tonic-clonic, absence and drop attacks), scoliosis of variable severity, areflexia, elevated creatine kinase serum levels, and relative preservation of cognitive function until late in the disease course.

PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6 Is also known as north sea progressive myoclonus epilepsy|pme type 6|gosr2-related progressive myoclonus ataxia|epm6|progressive myoclonus epilepsy type 6

Related symptoms:

  • Seizures
  • Scoliosis
  • Ataxia
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE MYOCLONIC EPILEPSY TYPE 6

Low match FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY


Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance.

FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY Is also known as juberg-hellman syndrome|efmr|epilepsy, female-restricted, with mental retardation

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about FEMALE RESTRICTED EPILEPSY WITH INTELLECTUAL DISABILITY

Low match RAPID-ONSET DYSTONIA-PARKINSONISM


Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress.

RAPID-ONSET DYSTONIA-PARKINSONISM Is also known as dyt12|dystonia-parkinsonism, rapid-onset|rdp|dystonia 12

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about RAPID-ONSET DYSTONIA-PARKINSONISM

Low match RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

Low match LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME


This disease is characterised by progressive cerebellar ataxia with pyramidal and spinal cord dysfunction, associated with distinctive MRI anomalies and increased lactate in the abnormal white matter.

LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME Is also known as mitochondrial aspartyl-trna synthetase deficiency|leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome|lbsl

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LEUKOENCEPHALOPATHY WITH BRAIN STEM AND SPINAL CORD INVOLVEMENT-HIGH LACTATE SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Fever

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

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dysarthria Dystonia Gait ataxia Epileptic encephalopathy Depressivity Febrile seizures Unsteady gait Spasticity Progressive cerebellar ataxia Generalized myoclonic seizures Generalized tonic-clonic seizures Delayed speech and language development Motor delay Hyperreflexia Cognitive impairment

Rare Symptoms - Less than 30% cases


Resting tremor Progressive neurologic deterioration Cutaneous photosensitivity Anxiety Mental deterioration Abnormality of movement Migraine Cerebellar atrophy Peripheral neuropathy Hyporeflexia Clumsiness Atonic seizures Absence seizures Drooling Scoliosis Hearing impairment Parkinsonism Hemiclonic seizures Myoclonus Hypomimic face Bradykinesia EEG abnormality Status epilepticus Rigidity Neuronal loss in central nervous system Dysphonia Weak voice Torsion dystonia Focal dystonia Limb dystonia Poor speech Peripheral axonal neuropathy Truncal ataxia Hypertonia Emotional lability Mutism Apraxia Torticollis Leukoencephalopathy Intellectual disability, mild Craniofacial dystonia Inability to walk Postural instability Gliosis Broad-based gait Slurred speech Episodic ataxia Abnormal posturing Oculogyric crisis Personality disorder Rheumatoid arthritis Epiretinal membrane Elliptocytosis Retinal pigment epithelial atrophy Poikilocytosis Decreased serum iron Juvenile rheumatoid arthritis Macular edema Ring scotoma Photoreceptor layer loss on macular OCT Nystagmus Intermittent hyperventilation Anisocytosis Retinal atrophy Optic disc pallor Decreased mean corpuscular volume Muscle weakness Abnormality of skin pigmentation Nyctalopia Pallor Flexion contracture Skeletal muscle atrophy Babinski sign Abnormality of the cerebral white matter Arthritis Edema Myopia Anemia Retrocollis Dysphagia Syndactyly Bruxism Focal impaired awareness seizure Personality changes Postural tremor Abnormality of extrapyramidal motor function Memory impairment Hypoglycemia Dementia Cerebral atrophy Fatigue Gait disturbance Atypical absence seizures Developmental stagnation Aspiration pneumonia Aspiration Head tremor Limb ataxia Cyanosis Abnormal pyramidal sign Abnormality of the nervous system Pneumonia Myoclonic absences Eyelid myoclonus Cortical myoclonus Myokymia Arnold-Chiari type I malformation Absent speech Short stature Hand tremor Kinetic tremor Hyperventilation Elevated serum creatine phosphokinase Psychosis Focal-onset seizure Autistic behavior Developmental regression Aggressive behavior Autism Hyperactivity Encephalopathy Intellectual disability, severe Motor deterioration Sensory neuropathy Difficulty walking Areflexia Onion bulb formation Recurrent spontaneous abortion Increased circulating cortisol level Hepatitis Lower limb muscle weakness Myalgia Impaired oropharyngeal swallow response Sleepy facial expression Acute demyelinating polyneuropathy Dysesthesia Distal lower limb muscle weakness EMG: neuropathic changes Episodic fever Sensory ataxia



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Intrauterine growth retardation and Retrognathia, related diseases and genetic alterations Intellectual disability, severe and Cirrhosis, related diseases and genetic alterations Depressed nasal bridge and Upslanted palpebral fissure, related diseases and genetic alterations Myopathy and Systemic lupus erythematosus, related diseases and genetic alterations Cataract and Primary amenorrhea, related diseases and genetic alterations Ataxia and Paraplegia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more