Ataxia, and Fatigue

Diseases related with Ataxia and Fatigue

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


Top matches:

Medium match FAMILIAL CORTICAL MYOCLONUS


Familial cortical myoclonus is a rare, genetic movement disorder characterized by autosomal dominant, adult-onset, slowly progressive, multifocal, cortical myoclonus. Patients present somatosensory-evoked, brief, jerky, involuntary movements in the face, arms and legs, associated in most cases with sustained, multiple, sudden falls without loss of consciousness. Seizures or other neurological deficits, aside from mild cerebellar ataxia late in the course of the illness, are absent.

Related symptoms:

  • Seizures
  • Ataxia
  • Fatigue
  • Myoclonus
  • Falls


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL CORTICAL MYOCLONUS

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

Low match ATYPICAL JUVENILE PARKINSONISM


Atypical juvenile parkinsonism (AJP) is a complex form of young-onset Parkinson disease (YOPD; see this term) that manifests with pyramidal signs, eye movement abnormalities, psychiatric manifestations (depression, anxiety, drug-induced psychosis, and impulse control disorders), intellectual disability, and other neurological symptoms (such as ataxia and epilepsy) along with classical parkinsonian symptoms.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Fatigue
  • Dystonia


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL JUVENILE PARKINSONISM

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Other less relevant matches:

Low 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

Low match FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION


Familial dilated cardiomyopathy with conduction defect due to LMNA mutation is a rare familial dilated cardiomyopathy characterized by left ventricular enlargement and/or reduced systolic function preceded or accompanied by significant conduction system disease and/or arrhythmias including bradyarrhythmias, supraventricular or ventricular arrhythmias. Disease onset is usually in early to mid-adulthood. Sudden cardiac death may occur and may be the presenting symptom. In some cases, it is associated with skeletal myopathy and elevated serum creatine kinase.

FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION Is also known as cardiomyopathy, familial idiopathic|cardiomyopathy, idiopathic dilated|cardiomyopathy, dilated, with conduction defect 1|cdcd1|cardiomyopathy, congestive

Related symptoms:

  • Ataxia
  • Pain
  • Fatigue
  • Ventriculomegaly
  • Cardiomyopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about FAMILIAL DILATED CARDIOMYOPATHY WITH CONDUCTION DEFECT DUE TO LMNA MUTATION

Low match FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2


Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2

Low match X-LINKED SIDEROBLASTIC ANEMIA


X-linked sideroblastic anemia is a constitutional microcytic, hypochromic anemia of varying severity that is clinically characterized by manifestations of anemia and iron overload and that may respond to treatment with pyridoxine and folic acid.

X-LINKED SIDEROBLASTIC ANEMIA Is also known as anemia, hereditary sideroblastic|xlsa|anemia, hypochromic|anemia, sideroblastic, x-linked|anh1|hereditary iron-loading anemia

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Anemia
  • Hepatomegaly
  • Fatigue


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED SIDEROBLASTIC ANEMIA

Low match PANCREATIC CANCER


Pancreatic cancer shows among the highest mortality rates of any cancer, with a 5-year relative survival rate of less than 5%. By the time of initial diagnosis, metastatic disease is commonly present. Established risk factors include a family history of pancreatic cancer, a medical history of diabetes type 2, and cigarette smoking (summary by Amundadottir et al., 2009). Genetic Heterogeneity of Pancreatic CancerSomatic mutations in pancreatic cancer occur in the KRAS (OMIM ), CDKN2A (OMIM ), MADH4 (OMIM ), TP53 (OMIM ), ARMET (OMIM ), STK11 (OMIM ), ACVR1B (OMIM ), and RBBP8 (OMIM ) genes.Susceptibility loci for pancreatic cancer include PNCA1 (OMIM ), related to mutation in the PALLD gene on chromosome 4q32 (OMIM ); PNCA2 (OMIM ), related to mutation in the BRCA2 gene on chromosome 13q12 (OMIM ); PNCA3 (OMIM ), related to mutation in the PALB2 gene on chromosome 16p12 (OMIM ); and PNCA4 (OMIM ), related to mutation in the BRCA1 gene on chromosome 17q21 (OMIM ). Occurrence of Pancreatic Cancer in Other DisordersSeveral familial cancer syndromes increase the risk of pancreatic cancer. The best characterized include hereditary nonpolyposis colon cancer syndrome (HNPCC; see {120435}); hereditary breast-ovarian cancer syndrome due to mutations in BRCA2; Peutz-Jeghers syndrome (OMIM ); the melanoma-pancreatic cancer syndrome (OMIM ), caused by mutations in CDKN2A (OMIM ); von Hippel-Lindau syndrome (OMIM ), ataxia-telangiectasia (OMIM ) (Swift et al., 1976), and juvenile polyposis syndrome (OMIM ).Patients with hereditary pancreatitis (OMIM ) resulting from gain-of-function mutations in the protease serine-1 gene (PRSS1 ) have a lifetime pancreatic cancer risk ratio of 57 and a cumulative incidence, to age 70 years, of 40% (Lowenfels et al., 1997).

PANCREATIC CANCER Is also known as pancreatic carcinoma|pancreatic acinar carcinoma

Related symptoms:

  • Ataxia
  • Neoplasm
  • Pain
  • Fatigue
  • Diabetes mellitus


SOURCES: ORPHANET OMIM MENDELIAN

More info about PANCREATIC CANCER

Low match PAROXYSMAL NON-KINESIGENIC DYSKINESIA


Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.

PAROXYSMAL NON-KINESIGENIC DYSKINESIA Is also known as paroxysmal dystonic choreoathetosis|choreoathetosis, nonkinesigenic|pdc|dystonia 8|paroxystic non-kinesigenic choreoathetosis|dyt8|choreoathetosis, familial paroxysmal|mount-reback syndrome|fpd1

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Dysarthria
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about PAROXYSMAL NON-KINESIGENIC DYSKINESIA

Low match EPISODIC ATAXIA, TYPE 6; EA6


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 6; EA6

Top 5 symptoms//phenotypes associated to Ataxia and Fatigue

Symptoms // Phenotype % cases
Dysarthria Uncommon - Between 30% and 50% cases
Dysphagia Uncommon - Between 30% and 50% cases
Rigidity Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Migraine Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Abnormality of movement Hearing impairment Gait ataxia Hyporeflexia Dystonia Myoclonus Myopathy

Rare Symptoms - Less than 30% cases


Akinesia Pain Resting tremor Ptosis Vertigo Headache Parkinsonism Episodic ataxia Involuntary movements Dyspnea Falls Dementia Depressivity Muscle weakness Anxiety Breast carcinoma Thiamine-responsive megaloblastic anemia Neoplasm Ovarian neoplasm Diabetes mellitus Jaundice Abdominal pain Weight loss Carcinoma Melanoma Telangiectasia Pancreatitis Colon cancer Microcytic anemia Hypolipidemia Cirrhosis Frontal lobe dementia Anemia Hepatomegaly Splenomegaly Hepatosplenomegaly Elevated hepatic transaminase Pallor Hyperpigmentation of the skin Abnormality of iron homeostasis Myelodysplasia Glucose intolerance Macrocytic anemia Megaloblastic anemia Anemia of inadequate production Hypochromic microcytic anemia Hypocholesterolemia Sideroblastic anemia Exocrine pancreatic insufficiency Paraplegia Neoplasm of the pancreas Photophobia Staring gaze Generalized hypotonia Nystagmus Motor delay Vomiting Cerebellar atrophy Cerebellar hypoplasia Nausea Kernicterus Hemiparesis Diplopia Truncal ataxia Slurred speech Hemiplegia Urinary urgency Gaze-evoked nystagmus Phonophobia Paroxysmal choreoathetosis Paroxysmal dystonia Chronic pancreatitis Dyskinesia Pancreatic adenocarcinoma Increased level of L-fucose in urine Spasticity Joint stiffness Neurological speech impairment Spastic paraplegia Frontotemporal dementia Generalized muscle weakness Paroxysmal dyskinesia Chorea Choreoathetosis Torticollis Hyperkinesis Encephalitis Trismus Myokymia Facial grimacing Pseudobulbar signs Reduced systolic function Bulbar palsy Anarthria Inability to walk Postural instability Brain atrophy Bradykinesia Hypomimic face Shuffling gait Weak voice Leg muscle stiffness Pes cavus Short stepped shuffling gait Abnormality of nervous system physiology Slowed slurred speech Glaucoma Ophthalmoplegia Exercise intolerance External ophthalmoplegia Abnormal pyramidal sign Scoliosis Ophthalmoparesis Cerebral atrophy Frequent falls Loss of consciousness Cortical myoclonus Cognitive impairment Fever Tremor Gait disturbance Hypoglycemia Intellectual disability Mental deterioration Memory impairment Abnormality of extrapyramidal motor function Postural tremor Personality changes Hand tremor Head tremor Kinetic tremor Bilateral ptosis Progressive external ophthalmoplegia Amyotrophic lateral sclerosis Skeletal myopathy Thromboembolism Abnormal EKG Myocarditis Atrial flutter Sinus bradycardia Left ventricular noncompaction Left ventricular failure Premature atrial contractions Abnormality of the thyroid gland Paroxysmal ventricular tachycardia Sensorineural hearing impairment Areflexia Babinski sign Cerebral cortical atrophy Proximal muscle weakness Ragged-red muscle fibers Abnormality of mitochondrial metabolism Amyloidosis Pericardial effusion Increased muscle fatiguability Sudden cardiac death Multiple mitochondrial DNA deletions Ventriculomegaly Cardiomyopathy Congestive heart failure Dilatation Arrhythmia Dilated cardiomyopathy Chest pain Bundle branch block Cardiomegaly Ventricular hypertrophy Atrial fibrillation Bradycardia Ventricular arrhythmia Atrioventricular block Ventricular fibrillation Increased variability in muscle fiber diameter Hypometric saccades



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