Cognitive impairment, and Fatigue

Diseases related with Cognitive impairment and Fatigue

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


Top matches:

Medium match CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES


Congenital myopathy with internal nuclei and atypical cores is a rare genetic skeletal muscle disease characterized by neonatal hypotonia, distal more than proximal muscle weakness, progressive exercise intolerance with prominent myalgias, and mild-to-moderate overall motor impairment with preserved ambulation. Face, extraocular, cardiac, and respiratory muscles are unaffected. Mild cognitive impairment is also noted in most patients.

CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES Is also known as cnm4|centronuclear myopathy type 4

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Cognitive impairment
  • Fatigue
  • Myopathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MYOPATHY WITH INTERNAL NUCLEI AND ATYPICAL CORES

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 BENIGN FAMILIAL INFANTILE EPILEPSY


Benign familial infantile epilepsy (BFIE) is a genetic epileptic syndrome characterized by the occurrence of afebrile repeated seizures in healthy infants, between the third and eighth month of life.

BENIGN FAMILIAL INFANTILE EPILEPSY Is also known as bfis|benign familial infantile seizures|bfie|benign familial infantile convulsions

Related symptoms:

  • Seizures
  • Muscular hypotonia
  • Fatigue
  • Hypertonia
  • Myoclonus


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL INFANTILE EPILEPSY

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Other less relevant matches:

Low match ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS


Autosomal recessive spastic paraplegia-78 is an adult-onset neurodegenerative disorder characterized predominantly by spasticity and muscle weakness of the lower limbs, resulting in gait difficulties and loss of ambulation in some patients. Affected individuals also have cerebellar signs, such as dysarthria, oculomotor disturbances, and limb and gait ataxia; brain imaging shows cerebellar atrophy. Some patients may have mild cognitive impairment or frank dementia. The phenotype is highly variable (summary by Estrada-Cuzcano et al., 2017).Biallelic mutation in the ATP13A2 gene also causes Kufor-Rakeb syndrome (KRS ), a neurodegenerative disorder with overlapping features. Patients with KRS have earlier onset and prominent parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017).

ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS Is also known as juvenile parkinsonism-neuronal ceroid lipofuscinosis|cln12 disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

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 MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B


Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Cataract
  • Ptosis
  • Cognitive impairment
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B

Low match HYPERINSULINISM DUE TO HNF1A DEFICIENCY


Hyperinsulinism due to HNF1A deficiency is a form of diazoxide-sensitive diffuse hyperinsulinism (DHI), characterized by transient or persistent hyperinsulinemic hypoglycemia (HH) in infancy that is responsive to diazoxide, evolving in to maturity-onset diabetes of the young subtype 1 (MODY-1; see this term) later in life.

HYPERINSULINISM DUE TO HNF1A DEFICIENCY Is also known as hyperinsulinemic hypoglycemia due to hnf1a deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hepatomegaly
  • Tremor
  • Fatigue


SOURCES: ORPHANET MENDELIAN

More info about HYPERINSULINISM DUE TO HNF1A DEFICIENCY

Low match BRAIN DOPAMINE-SEROTONIN VESICULAR TRANSPORT DISEASE


Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DOPAMINE-SEROTONIN VESICULAR TRANSPORT DISEASE

Low match HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B


HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B Is also known as gtp cyclohydrolase i deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

Low match ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY


Glucose transporter type 1 (GLUT1) deficiency syndrome is characterized by an encephalopathy marked by childhood epilepsy that is refractory to treatment, deceleration of cranial growth leading to microcephaly, psychomotor retardation, spasticity, ataxia, dysarthria and other paroxysmal neurological phenomena often occurring before meals. Symptoms appear between the age of 1 and 4 months, following a normal birth and gestation.

ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY Is also known as glut1-ds|glucose transport defect, blood-brain barrier|glut-1 deficiency syndrome|de vivo disease|glucose transporter type 1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about ENCEPHALOPATHY DUE TO GLUT1 DEFICIENCY

Top 5 symptoms//phenotypes associated to Cognitive impairment and Fatigue

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Parkinsonism Uncommon - Between 30% and 50% cases
Tremor Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Dystonia Generalized hypotonia Depressivity Hyperreflexia Babinski sign Hypertonia Ptosis Muscle weakness Rigidity Abnormality of movement Gait disturbance Lethargy Dysphagia Myopathy Muscular hypotonia of the trunk Choreoathetosis Dyskinesia Abnormality of eye movement Abnormality of the eye Myoclonus Global developmental delay Dementia Spasticity Intellectual disability Hyperhidrosis Mental deterioration Strabismus

Rare Symptoms - Less than 30% cases


Ragged-red muscle fibers Behavioral abnormality Cerebral cortical atrophy Oculogyric crisis Postural instability Hyperkinesis Progressive neurologic deterioration Encephalopathy Postnatal microcephaly Limb dystonia Bradykinesia Involuntary movements Drowsiness Sleep disturbance Cerebral atrophy Falls Migraine Memory impairment Fever Muscular hypotonia Hearing impairment Resting tremor Postural tremor Myalgia Hallucinations Neonatal hypotonia Anxiety Severe muscular hypotonia Intellectual disability, progressive Motor delay Torticollis Irritability Hyperactivity Constipation Drooling Extrapyramidal dyskinesia Generalized hyperreflexia Poor suck Incoordination Feeding difficulties Paroxysmal involuntary eye movements Abnormal autonomic nervous system physiology Spastic tetraparesis Poor head control Nasal speech Dysdiadochokinesis Stridor Abnormality of the vasculature Hypoglycorrhachia Hypomimic face Shuffling gait Orofacial dyskinesia Stooped posture Impulsivity Inappropriate crying Abnormality of coordination Obsessive-compulsive behavior Episodic fever Opisthotonus Central apnea Chorea Paroxysmal dystonia Epileptic encephalopathy Paroxysmal dyskinesia Specific learning disability Cyanosis Apraxia Status epilepticus Confusion Hemiparesis Progressive microcephaly Muscle stiffness Atonic seizures Absence seizures Sleep apnea Language impairment Focal impaired awareness seizure Generalized myoclonic seizures Poor speech Hypokinesia Intellectual disability, severe Slurred speech Limb hypertonia Excessive salivation Infantile encephalopathy Hyperphenylalaninemia Microcephaly Delayed speech and language development Headache Generalized tonic-clonic seizures Abnormality of metabolism/homeostasis Difficulty walking Abnormal erythrocyte morphology Atypical absence seizures EEG abnormality Intellectual disability, moderate Apnea Paralysis Focal-onset seizure Skeletal myopathy Abnormality of the foot Supranuclear gaze palsy Paraplegia Distal sensory impairment Polyneuropathy Abnormal cerebellum morphology Tetraplegia Spastic tetraplegia Diffuse cerebral atrophy Neurogenic bladder Aggressive behavior Myokymia Parkinsonism with favorable response to dopaminergic medication Upgaze palsy Abnormal caudate nucleus morphology Sensorineural hearing impairment Areflexia Hyporeflexia Spastic paraplegia Gait ataxia Abnormality of mitochondrial metabolism Deeply set eye Centrally nucleated skeletal muscle fibers Hypoglycemia Abnormality of extrapyramidal motor function Personality changes Hand tremor Head tremor Kinetic tremor Nausea and vomiting Pes cavus Abnormality of vision Dysphasia Reduced consciousness/confusion Dysesthesia Nystagmus Hypoplasia of the corpus callosum Cerebellar atrophy Proximal muscle weakness Akinesia Abnormality of fatty-acid metabolism Increased body weight Hepatomegaly Vomiting Diarrhea Elevated hepatic transaminase Pallor Tachycardia Coma Hyperinsulinemia Gowers sign Large for gestational age Agitation Neonatal hypoglycemia Hyperinsulinemic hypoglycemia Hypoketotic hypoglycemia Fasting hypoglycemia Pancreatic islet-cell hyperplasia Mitochondrial myopathy Dysphonia Amyotrophic lateral sclerosis Cardiomyopathy Bulbar palsy Frontotemporal dementia Pseudobulbar signs Frontal lobe dementia Cataract Skeletal muscle atrophy Respiratory distress Obesity External ophthalmoplegia Acidosis Hypertrophic cardiomyopathy Ophthalmoplegia Congenital cataract Lactic acidosis Generalized muscle weakness Exercise intolerance Paroxysmal lethargy



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