Ataxia, and Bipolar affective disorder

Diseases related with Ataxia and Bipolar affective disorder

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


Top matches:

Medium match SPINOCEREBELLAR ATAXIA 7; SCA7


Spinocerebellar ataxia-7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive cerebellar ataxia associated with pigmental macular dystrophy. In her classification of ataxia, Harding (1982) referred to progressive cerebellar ataxia with pigmentary macular degeneration as type II ADCA (autosomal dominant cerebellar ataxia). The age at onset, degree of severity, and rate of progression vary among and within families. Associated neurologic signs, such as ophthalmoplegia, pyramidal or extrapyramidal signs, deep sensory loss, or dementia, are also variable. Genetic anticipation is observed and is greater in paternal than in maternal transmissions (Benomar et al., 1994; summary by David et al., 1996).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

SPINOCEREBELLAR ATAXIA 7; SCA7 Is also known as opca iii|opca with macular degeneration and external ophthalmoplegia|adca, type ii|olivopontocerebellar atrophy iii|opca3|opca with retinal degeneration|autosomal dominant cerebellar ataxia, type ii

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Failure to thrive


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 7; SCA7

Medium match FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE


Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.

FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE Is also known as frontotemporal dementia and/or amyotrophic lateral sclerosis|frontotemporal dementia with amyotrophic lateral sclerosis|ftd-mnd|ftdmnd|ftd-als|amyotrophic lateral sclerosis and/or frontotemporal dementia|alsftd|frontotemporal dementia and/or motor neuron

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Ptosis
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE

Medium match FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME


Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME Is also known as fxtas syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

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Other less relevant matches:

Medium match BILATERAL STRIOPALLIDODENTATE CALCINOSIS


Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Medium match PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Medium match 3Q29 MICRODELETION SYNDROME


3q29 microdeletion syndrome is a recurrent subtelomeric deletion syndrome with variable clinical manifestations including intellectual deficit and dysmorphic features.

3Q29 MICRODELETION SYNDROME Is also known as del(3)(q29)|microdeletion 3q29 syndrome|3q subtelomere deletion syndrome|monosomy 3q29|monosomy 3qter|3qter deletion

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Microcephaly
  • Ataxia
  • Failure to thrive


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about 3Q29 MICRODELETION SYNDROME

Medium match AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA


Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004).PEO caused by mutation in the POLG gene is associated with more complicated phenotypes than those forms caused by mutation in the ANT1 or C10ORF2 genes (Lamantea et al., 2002). Genetic Heterogeneity of Autosomal Dominant Progressive External Ophthalmoplegia with DNA DeletionsSee also PEOA2 (OMIM ), caused by mutation in the ANT1 gene (SLC25A4 ) on chromosome 4q34; PEOA3 (OMIM ), caused by mutation in the twinkle gene (C10ORF2 ) on chromosome 10q24; PEOA4 (OMIM ), caused by mutation in the POLG2 gene (OMIM ) on chromosome 17q; PEOA5 (OMIM ), caused by mutation in the RRM2B gene (OMIM ) on chromosome 8q23; and PEOA6 (OMIM ), caused by mutation in the DNA2 gene (OMIM ) on chromosome 10q.

AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as progressive external ophthalmoplegia, autosomal dominant 1|adpeo

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Medium match GAUCHER DISEASE TYPE 1


Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

Medium match VELOCARDIOFACIAL SYNDROME


VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Medium match HUNTINGTON DISEASE-LIKE 1


HUNTINGTON DISEASE-LIKE 1 Is also known as early-onset prion disease with prominent psychiatric features|hln1|prion disease, early-onset, with prominent psychiatric features|hdl1|huntington-like neurodegenerative disorder 1|huntington-like neurodegenerative disorder, autosomal dominant

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Cognitive impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about HUNTINGTON DISEASE-LIKE 1

Top 5 symptoms//phenotypes associated to Ataxia and Bipolar affective disorder

Symptoms // Phenotype % cases
Depressivity Very Common - Between 80% and 100% cases
Cognitive impairment Very Common - Between 80% and 100% cases
Dementia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Bipolar affective disorder. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Seizures

Uncommon Symptoms - Between 30% and 50% cases


Bradykinesia

Common Symptoms - More than 50% cases


Tremor

Uncommon Symptoms - Between 30% and 50% cases


Dysphagia

Common Symptoms - More than 50% cases


Gait disturbance

Uncommon Symptoms - Between 30% and 50% cases


Rigidity

Common Symptoms - More than 50% cases


Parkinsonism

Uncommon Symptoms - Between 30% and 50% cases


Mental deterioration Chorea Dysmetria Gait ataxia Intellectual disability Anxiety Memory impairment Psychosis Muscle weakness Apathy Generalized hypotonia Cataract Abnormality of extrapyramidal motor function Behavioral abnormality Gliosis Proximal muscle weakness Hearing impairment Hyporeflexia Aggressive behavior Failure to thrive Ptosis Cerebellar atrophy Fatigue Hypothyroidism Mask-like facies Resting tremor Microcephaly Limb muscle weakness Thrombocytopenia Short stature Dysdiadochokinesis Pain Cerebral cortical atrophy Amenorrhea Global brain atrophy Peripheral neuropathy Delusions Arrhythmia Hypertension Myalgia Brain atrophy Premature ovarian insufficiency Hyperreflexia Ophthalmoplegia Ophthalmoparesis Progressive cerebellar ataxia Schizophrenia External ophthalmoplegia Abnormality of eye movement Olivopontocerebellar atrophy Neuronal loss in central nervous system Delayed speech and language development Skeletal muscle atrophy Nystagmus

Rare Symptoms - Less than 30% cases


Corneal opacity Neurological speech impairment Pulmonary arterial hypertension Scoliosis Anorexia Nasal speech Cholelithiasis Clumsiness Osteoporosis Congenital cataract Frequent falls Abnormality of the liver Hepatomegaly Obsessive-compulsive behavior Abnormality of the thyroid gland Anemia Poor fine motor coordination Impaired distal vibration sensation Motor delay EEG abnormality Primary amenorrhea Ventriculomegaly Arthritis Encephalopathy Exertional dyspnea Hypokinesia Basal ganglia calcification Slurred speech Abnormal facial shape Mood swings Patent ductus arteriosus EMG: myopathic abnormalities Dysphonia Posteriorly rotated ears Sensory axonal neuropathy Progressive external ophthalmoplegia Inguinal hernia Hypospadias Exercise intolerance Hernia Mitochondrial myopathy Cytochrome C oxidase-negative muscle fibers High palate Multiple mitochondrial DNA deletions Subsarcolemmal accumulations of abnormally shaped mitochondria Ragged-red muscle fibers Progressive muscle weakness Abnormality of skin pigmentation Hypogonadism Sensorineural hearing impairment Cleft palate Visual impairment Respiratory insufficiency Myopathy Elevated serum creatine phosphokinase Diabetes mellitus Hyperactivity Sensory neuropathy Muscle cramps Migraine Increased serum lactate Gastroesophageal reflux Left ventricular hypertrophy Pulmonic stenosis Progressive neurologic deterioration Spastic paraparesis Emotional lability Abnormal cerebellum morphology Postural instability Paraparesis Incoordination Mutism Personality changes Autism Babinski sign Pigmentary retinopathy Areflexia Retinopathy Abnormal pyramidal sign Frontotemporal dementia Abnormal lower motor neuron morphology Supranuclear gaze palsy Focal dystonia Disinhibition Dyskinesia Hallucinations Abnormality of movement Dystonia Slow saccadic eye movements Urinary incontinence Myoclonus Apraxia Spasticity Orofacial dyskinesia Cerebral atrophy Increased serum ferritin Hepatocellular carcinoma Gingival bleeding Protuberant abdomen Aseptic necrosis Hypersplenism Abnormality of the shoulder Arthralgia of the hip Pathologic fracture Interstitial pulmonary abnormality Involuntary movements Orthopnea Pericardial effusion Abnormal platelet function Vertebral compression fractures Hyperactive deep tendon reflexes Avascular necrosis of the capital femoral epiphysis Periorbital edema Generalized osteosclerosis Fractures of the long bones Spontaneous hematomas Abnormality of the spleen Abnormal posturing Abnormality of coagulation Abnormality of bone marrow cell morphology Edema of the lower limbs Abnormality of the basal ganglia Abnormal myocardium morphology Flank pain Restlessness Mania Multiple myeloma Esodeviation Petechiae Clubbing Increased antibody level in blood Basal ganglia gliosis Ascites Hematuria Bruising susceptibility Abnormal head movements Cirrhosis Lymphadenopathy Delayed puberty Abnormality of the eye Proteinuria Jerky head movements Hepatosplenomegaly Abnormal bleeding Osteopenia Dyspnea Abdominal pain Recurrent respiratory infections Delayed skeletal maturation Kyphosis Splenomegaly Congestive heart failure Diarrhea Myopia Strabismus Abdominal distention Generalized myoclonic seizures Osteomyelitis Oculomotor apraxia Abnormal saccadic eye movements Menorrhagia Leukocytosis Vascular calcification Abnormality of the thorax Portal hypertension Abnormality of higher mental function Increased susceptibility to fractures Reduced bone mineral density Jerky ocular pursuit movements Leukopenia Osteolysis Syncope Meningitis Increased bone mineral density Bone pain Hepatic fibrosis Decreased body weight Osteoarthritis Abnormality of ocular smooth pursuit Epistaxis Pancytopenia Abnormality of the cardiovascular system Cyanosis Erlenmeyer flask deformity of the femurs Horizontal supranuclear gaze palsy Biliary tract obstruction Narrow palpebral fissure Juvenile rheumatoid arthritis Bicuspid aortic valve Seborrheic dermatitis Holoprosencephaly Aplasia of the uterus Graves disease Purpura Interrupted aortic arch Perimembranous ventricular septal defect Multicystic kidney dysplasia Abnormality of the hand Platybasia Hypocalcemia Spina bifida Right aortic arch Renal dysplasia Impaired T cell function Open mouth Low posterior hairline Tetralogy of Fallot Duodenal stenosis Arnold-Chiari malformation Rheumatoid arthritis Specific learning disability Anal stenosis Pierre-Robin sequence Myelomeningocele Meningocele Hearing abnormality Hypoparathyroidism Echolalia Abnormality of the endocrine system Vitiligo Posterior embryotoxon Autoimmune thrombocytopenia Psoriasiform dermatitis Submucous cleft hard palate Axonal loss Autoimmune hemolytic anemia Abnormality of the ear Pulmonary artery atresia Myopathic facies Inflammation of the large intestine Hypoplasia of the brainstem Acne Unilateral renal agenesis Peripheral demyelination Renal agenesis Puberty and gonadal disorders Right aortic arch with mirror image branching Immunodeficiency Intellectual disability, severe Atrial septal defect Perineal fistula Congenital conductive hearing impairment Hydrocephalus Hypoplasia of the corpus callosum Short neck Ventricular septal defect Sacral meningocele Abnormality of cardiovascular system morphology Fever Muscular hypotonia Unilateral lung agenesis Unilateral primary pulmonary dysgenesis Truncus arteriosus Cardiac valve calcification Weight loss Unsteady gait Hematological neoplasm Decreased beta-glucocerebrosidase protein and activity Recurrent infections Vascular ring Underdeveloped nasal alae Retinal vascular tortuosity Vesicoureteral reflux Paranoia Bifid uvula Hemolytic anemia Bulbous nose Anal atresia Autoimmunity Blepharophimosis Abnormality of the pinna Conductive hearing impairment Giant platelets Central nervous system degeneration Umbilical hernia Velopharyngeal insufficiency Conotruncal defect Psychotic episodes Retrognathia Abnormal heart morphology Obesity Aplasia of the thymus Arteria lusoria Absent speech Growth delay Prominent nasal bridge Focal white matter lesions Abnormality of brainstem morphology Headache Intrauterine growth retardation Impaired tandem gait Subcortical dementia Inertia Retrocollis Obsessive-compulsive trait Diffuse cerebellar atrophy Abnormal nerve conduction velocity Pollakisuria Vertigo Saccadic smooth pursuit Dysesthesia Kinetic tremor Astrocytosis Diffuse cerebral atrophy Action tremor Urinary bladder sphincter dysfunction Atrophy/Degeneration affecting the brainstem Bowel incontinence Paralysis Cerebral calcification Impotence Limb dysmetria Lower limb muscle weakness Severe global developmental delay Cardiomyopathy Dense calcifications in the cerebellar dentate nucleus Calcification of the small brain vessels Pill-rolling tremor Progressive choreoathetosis Micrographia Focal motor seizures Subcutaneous hemorrhage Choreoathetosis Alcoholism Pseudohypoparathyroidism Calcinosis Lewy bodies Progressive encephalopathy Abnormality of neuronal migration Athetosis Oral-pharyngeal dysphagia Muscle stiffness Broad-based gait Agitation Postural tremor Generalized muscle weakness Head tremor Tetraparesis Bilateral sensorineural hearing impairment Neurodegeneration Distal muscle weakness Respiratory failure Spinocerebellar atrophy Supranuclear ophthalmoplegia Limb tremor Spinocerebellar tract degeneration Macular dystrophy Impulsivity Blurred vision Macular degeneration Progressive visual loss Retinal degeneration Paraplegia Spastic paraplegia Reduced visual acuity Visual loss Blindness Optic atrophy Fasciculations Alzheimer disease Abnormal autonomic nervous system physiology Neuronal loss in the cerebral cortex Horizontal nystagmus Limb ataxia Intention tremor Hypotension Distal sensory impairment Abnormality of the cerebral white matter Stroke Irritability Weakness due to upper motor neuron dysfunction Extrapyramidal dyskinesia Amyotrophic lateral sclerosis Abnormal mitochondrial morphology Motor neuron atrophy Dyscalculia Abnormal upper motor neuron morphology Perseveration Degeneration of the lateral corticospinal tracts Visual hallucinations Neurofibrillary tangles Bulbar palsy Generalized amyotrophy Paresthesia Ventricular hypertrophy Quadriceps muscle weakness Lactic acidosis Easy fatigability Goiter Ventricular arrhythmia Hypergonadotropic hypogonadism Sensorimotor neuropathy Cerebral visual impairment Palpitations Atrial fibrillation Coma Peripheral axonal neuropathy Increased variability in muscle fiber diameter Lethargy Dilated cardiomyopathy Facial palsy Elevated hepatic transaminase Acidosis Pes cavus Constipation Hypertonia Edema Abnormality of mitochondrial metabolism Glucose intolerance Subvalvular aortic stenosis Abnormality of the mitochondrion Progressive ophthalmoplegia Acute rhabdomyolysis Impaired distal proprioception Nocturia Muscle fiber necrosis Gastroparesis Cogwheel rigidity Parkinsonism with favorable response to dopaminergic medication Testicular atrophy Skeletal myopathy Difficulty climbing stairs Absent Achilles reflex Reduced ejection fraction Shoulder girdle muscle weakness Hypomimic face Facial diplegia Ketosis Gonadal dysgenesis Hyperthyroidism Secondary amenorrhea Rhabdomyolysis Six lumbar vertebrae Broad face Status epilepticus Epicanthus Clinodactyly of the 5th finger Clinodactyly Pectus excavatum Microphthalmia Short nose Abnormality of the dentition Frontal bossing Downslanted palpebral fissures Macrocephaly Low-set ears Thin upper lip vermilion Micrognathia Sensory ataxia Limb-girdle muscle weakness Insomnia Coronary artery atherosclerosis Ventricular fibrillation Bilateral ptosis Progressive hearing impairment Bradycardia Diplopia Macrotia Joint laxity Shallow orbits Tapered finger Sandal gap Horseshoe kidney Narrow face Aspiration Aortic valve stenosis Stereotypy Dental crowding Prominent nose Single transverse palmar crease Everted lower lip vermilion Cleft lip Long face Oral cleft Joint hyperflexibility Facial asymmetry Small for gestational age Pectus carinatum Short philtrum Attention deficit hyperactivity disorder Respiratory tract infection Intellectual disability, moderate Simultanapraxia



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