Nystagmus, and Fatigue

Diseases related with Nystagmus and Fatigue

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

Top matches:

Related symptoms:

  • Generalized hypotonia
  • Nystagmus
  • Muscle weakness
  • Ptosis
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 21, PRESYNAPTIC; CMS21

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Motor delay


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 6; EA6

Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014).

ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as scar10|autosomal recessive spinocerebellar ataxia type 10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

Other less relevant matches:

Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Hypertension


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

Fatal familial insomnia (FFI) is a very rare form of prion disease (see this term) characterized by subacute onset of insomnia showing as a reduced overall sleep time, autonomic dysfunction, and motor disturbances.

FATAL FAMILIAL INSOMNIA Is also known as insomnia, fatal familial

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Hypertension


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about FATAL FAMILIAL INSOMNIA

Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disorder characterized by recurrent episodes of hemiplegia and paroxysmal disturbances associated with persistent developmental delay and cognitive impairment.

ALTERNATING HEMIPLEGIA OF CHILDHOOD Is also known as ahc

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD

DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007).For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (OMIM ).

EPISODIC ATAXIA, TYPE 2; EA2 Is also known as cerebellopathy, hereditary paroxysmal|ataxia, familial paroxysmal|capa|acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|apca|cerebellar ataxia, paroxysmal, acetazolamide-responsive|ataxia, episodic, with nystagmus|episodic ataxia, nystagmu

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 2; EA2

Septooptic dysplasia (SOD) is a clinically heterogeneous disorder characterized by the classical triad of optic nerve hypoplasia, pituitary hormone abnormalities and midline brain defects.

SEPTO-OPTIC DYSPLASIA SPECTRUM Is also known as sod|septo-optic dysplasia|de morsier syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Nystagmus


SOURCES: ORPHANET MENDELIAN

More info about SEPTO-OPTIC DYSPLASIA SPECTRUM

Combined methylmalonic aciduria (MMA) and homocystinuria is a genetically heterogeneous disorder of cobalamin (cbl; vitamin B12) metabolism. The defect causes decreased levels of the coenzymes adenosylcobalamin (AdoCbl) and methylcobalamin (MeCbl), which results in decreased activity of the respective enzymes methylmalonyl-CoA mutase (MUT ) and methyltetrahydrofolate:homocysteine methyltransferase, also known as methionine synthase (MTR ). Different forms of the disorder have been classified according to complementation groups of cells in vitro: cblC (MAHCC ), cblD, cblF (MAHCF ), and cblJ (MAHCJ ).Isolated methylmalonic acidurias have also been classified by complementation groups: MMA 'mut' (OMIM ), caused by mutation in the MUT gene on chromosome 6p21; MMA cblA (OMIM ), caused by mutation in the MMAA gene (OMIM ) on 4q31; and MMA cblB (OMIM ), caused by mutation in the MMAB gene (OMIM ) on 12q24. Another form of isolated MMA (OMIM ) can be caused by defect in the transcobalamin receptor (CD320 ).

METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1 Is also known as methylmalonic acidemia, cblh type, formerly|functional methionine synthase deficiency type cbldv1|methylmalonic aciduria, cblh type, formerly|methylmalonic acidemia and homocystinuria, cbld type

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about METHYLCOBALAMIN DEFICIENCY TYPE CBLDV1

Top 5 symptoms//phenotypes associated to Nystagmus and Fatigue

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Gait ataxia Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Nystagmus and Fatigue. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Tremor Dysarthria Pes cavus Diplopia Global developmental delay Horizontal nystagmus Dystonia Depressivity Slurred speech Brisk reflexes Parkinsonism Sleep disturbance Anxiety Rigidity Encephalopathy Hypertension Hearing impairment Hemiplegia Gaze-evoked nystagmus Migraine Headache Apnea Motor delay Dysphagia Vomiting Scoliosis

Rare Symptoms - Less than 30% cases

Stridor Respiratory distress Rheumatoid arthritis Torticollis Generalized tonic-clonic seizures Abnormality of extrapyramidal motor function Bradykinesia Optic atrophy Involuntary movements Obsessive-compulsive behavior Gait disturbance Hypothyroidism Babinski sign Behavioral abnormality Talipes equinovarus Abnormal cerebellum morphology Pain Postural tremor Constipation Transient hyperphenylalaninemia Fever Spasticity Abnormal autonomic nervous system physiology Paresis of extensor muscles of the big toe Abnormality of the substantia nigra Confusion Hyperhidrosis Lower limb hyperreflexia Decreased CSF homovanillic acid Progressive flexion contractures Focal dystonia Generalized dystonia Mental deterioration Impaired vibration sensation in the lower limbs Limb dystonia Sensorineural hearing impairment Muscle weakness Facial palsy Hemiparesis Truncal ataxia Feeding difficulties Episodic ataxia Hyperreflexia Vertigo Intention tremor Difficulty walking Progressive cerebellar ataxia Ptosis Downbeat nystagmus Saccadic smooth pursuit Nausea Focal-onset seizure Loss of consciousness Postural instability Strabismus Short stature Muscle cramps Generalized muscle weakness Malignant hyperthermia Myotonia Cerebellar vermis atrophy Sleep apnea Vestibular dysfunction Tinnitus CNS hypomyelination Incoordination Focal impaired awareness seizure Rhabdomyolysis Ophthalmoparesis Epileptic encephalopathy Nausea and vomiting Paresthesia Axial dystonia Spastic diplegia Resting tremor Hyperactive deep tendon reflexes Upper motor neuron dysfunction Torsion dystonia Parkinsonism with favorable response to dopaminergic medication Oromandibular dystonia Writer's cramp Infantile encephalopathy Cryptorchidism Obsessive-compulsive trait Fixed facial expression Skeletal muscle atrophy Ventriculomegaly Hypoplasia of the corpus callosum Myopathy EEG abnormality Proximal muscle weakness Myalgia Cleft palate Tortuosity of conjunctival vessels Visual impairment Methylmalonic aciduria Abnormality of the nervous system Pallor Lethargy Aciduria Dehydration Anorexia Intracranial hemorrhage Megaloblastic anemia Increased mean corpuscular volume Spastic ataxia Cerebral cortical atrophy Homocystinuria Enterocolitis Methylmalonic acidemia Hyperhomocystinemia Decreased methylcobalamin Megaloblastic bone marrow Decreased methionine synthase activity Decreased adenosylcobalamin Decreased methylmalonyl-CoA mutase activity Acidosis Hepatomegaly Abnormality of cardiovascular system morphology Aplasia/Hypoplasia of the cerebellum Obesity Agenesis of corpus callosum Autism Dysphonia Hypoplasia of penis Hypohidrosis Anosmia Optic nerve hypoplasia Polydipsia Tracheoesophageal fistula Anemia Hemiplegia/hemiparesis Diabetes insipidus Absent septum pellucidum Esophageal atresia Maternal diabetes Abnormality of the hypothalamus-pituitary axis Anterior pituitary hypoplasia Septo-optic dysplasia Failure to thrive Muscular hypotonia Dry skin Hyperlordosis Cerebral palsy Hallucinations Tachycardia Inability to walk Neurodegeneration Coma Gliosis Memory impairment Neuronal loss in central nervous system Progressive neurologic deterioration Photophobia Myoclonus Hyperkinesis Apathy Cerebellar hypoplasia Agitation Impotence Aphasia Insomnia Hyperventilation Urinary bladder sphincter dysfunction Weight loss Dementia Bulbar signs Fasciculations Hypermetric saccades Leg muscle stiffness Dysmetric saccades Slow saccadic eye movements Progressive gait ataxia Ankle clonus Macular degeneration EMG abnormality Limb ataxia Urinary urgency Broad-based gait Generalized-onset seizure Retinal detachment Dysmetria Intellectual disability, moderate Intellectual disability, mild Cataract Hypometric saccades Phonophobia Hypothermia Dysuria Paraplegia Abnormality of the mitochondrion Exotropia Bradycardia Muscle stiffness Impulsivity Oral-pharyngeal dysphagia Anhidrosis Wheezing Facial paralysis Bronchospasm Status epilepticus Episodic quadriplegia Episodic hemiplegia Flexion contracture Hypertonia Abnormal enzyme/coenzyme activity Irritability Abnormal pyramidal sign Spastic paraplegia Abnormality of movement Choreoathetosis Esotropia Central apnea Cognitive impairment Astrocytosis Urinary retention Hypersomnia Delirium Snoring Exercise intolerance Knee flexion contracture Ophthalmoplegia Respiratory insufficiency Chorea Immunodeficiency Recurrent infections Areflexia Dyspnea Abnormality of the eye Developmental regression Paralysis Abnormality of eye movement Tetraplegia Hypomethioninemia


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