Cognitive impairment, and Paresthesia

Diseases related with Cognitive impairment and Paresthesia

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


Top matches:

Medium match ABETAL34V AMYLOIDOSIS


Hereditary cerebral hemorrhage with amyloidosis (HCHWA), Piedmont type is a form of HCHWA (see this term) characterized by an age of onset between 50-70 years of age, recurrent lobar intracerebral hemorrhages and cognitive decline.

ABETAL34V AMYLOIDOSIS Is also known as abetal34v-related amyloidosis|abeta amyloidosis, piedmont type|hchwa, piedmont type|hereditary cerebral hemorrhage with amyloidosis, piedmont type

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Behavioral abnormality
  • Dementia
  • Stroke


SOURCES: ORPHANET MENDELIAN

More info about ABETAL34V AMYLOIDOSIS

Medium match PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY


Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY Is also known as dyt9|cse choreoathetosis, paroxysmal, with episodic ataxia|episodic choreoathetosis/spasticity|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|choreoathetosis/spasticity, episodic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY

Medium 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

Mendelian

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

Learn more

Other less relevant matches:

Medium match MEGALOBLASTIC ANEMIA 1


Imerslund-Grasbeck syndrome is a form of congenital megaloblastic anemia due to vitamin B12 deficiency caused by a defect in the vitamin B12/intrinsic factor receptor. See also congenital pernicious anemia due to a defect in intrinsic factor (OMIM ).Adult pernicious anemia (OMIM ) is a distinct autoimmune disorder associated with plasma autoantibodies to gastric parietal cells or gastric intrinsic factor. In these cases, there is gastric atrophy and a relatively high frequency of associated thyroiditis and myxedema.

MEGALOBLASTIC ANEMIA 1 Is also known as pernicious anemia, juvenile, due to selective intestinal malabsorption of vitamin b12, with proteinuria|mga1|enterocyte intrinsic factor receptor, defect of|enterocyte cobalamin malabsorption|igs|imerslund-grasbeck syndrome

Related symptoms:

  • Anemia
  • Dementia
  • Proteinuria
  • Paralysis
  • Autoimmunity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MEGALOBLASTIC ANEMIA 1

Medium match HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME


Hereditary sensory neuropathy type IE is an autosomal dominant neurodegenerative disorder characterized by adult onset of progressive peripheral sensory loss associated with progressive hearing impairment and early-onset dementia (summary by Klein et al., 2011).For a discussion of genetic heterogeneity of HSN, see HSAN1A (OMIM ).

HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME Is also known as hsn ie|hsn1e|hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome|hsan1e|neuropathy, hereditary sensory, with hearing loss and dementia

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about HEREDITARY SENSORY NEUROPATHY-DEAFNESS-DEMENTIA SYNDROME

Medium match PAROXYSMAL EXERTION-INDUCED DYSKINESIA


Paroxysmal exertion-induced dyskinesia (PED) is a form of paroxysmal dyskinesia (see this term), characterized by painless attacks of dystonia of the extremities triggered by prolonged physical activities.

PAROXYSMAL EXERTION-INDUCED DYSKINESIA Is also known as ped with or without epilepsy and/or hemolytic anemia|paroxysmal exertion-induced dystonia with or without epilepsy and/or hemolytic anemia|dyt18|dystonia 18|ped|paroxysmal exercise-induced dyskinesia with or without epilepsy and/or hemolytic anemia

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PAROXYSMAL EXERTION-INDUCED DYSKINESIA

Medium match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y


Charcot-Marie-Tooth disease type 2Y is an autosomal dominant peripheral neuropathy characterized by distal muscle weakness and atrophy associated with length-dependent sensory loss. Most patients have involvement of both the lower and upper limbs. The age at onset and the severity of the disorder are highly variable (summary by Gonzalez et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y Is also known as charcot-marie-tooth disease, axonal, autosomal dominant, type 2y|cmt2y|autosomal dominant charcot-marie-tooth disease type 2 due to vcp mutation|cmt2 due to vcp mutation|charcot-marie-tooth neuropathy, type 2y

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy
  • Behavioral abnormality


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2Y

Medium match MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS


MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS Is also known as disseminated sclerosis

Related symptoms:

  • Seizures
  • Hearing impairment
  • Nystagmus
  • Neoplasm
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about MULTIPLE SCLEROSIS, SUSCEPTIBILITY TO; MS

Medium match SPORADIC CREUTZFELDT-JAKOB DISEASE


Sporadic Creutzfeldt-Jakob disease (sCJD) is a subacute fatal neurodegenerative disease belonging to the group of prion diseases, characterized by a clinical triad of dementia, myoclonus, and EEG anomalies, along with neuropathological evidence of neuronal loss, spongiform changes, and astrocytosis. There are three types of CJD: sporadicCJD (sCJD), inherited CJD (see this term), and iatrogenic and variant CJD (vCJD).

SPORADIC CREUTZFELDT-JAKOB DISEASE Is also known as sporadic cjd|creutzfeldt-jakob disease, familial

Related symptoms:

  • Ataxia
  • Cataract
  • Spasticity
  • Visual impairment
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPORADIC CREUTZFELDT-JAKOB DISEASE

Medium match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 10


Autosomal dominant spastic paraplegia type 10 (SPG10) is a rare type of hereditary spastic paraplegia that can present as either a pure form of spastic paraplegia with lower limb spasticity, hyperreflexia and extensor plantar responses, presenting in childhood or adolescence, or as a complex phenotype associated with additional manifestations including peripheral neuropathy with upper limb amyotrophy, moderate intellectual disability and parkinsonism. Deafness and retinitis pigmentosa were reported in one case.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 10 Is also known as spastic paraplegia 10 with or without peripheral neuropathy|spg10

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Spasticity


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 10

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

Symptoms // Phenotype % cases
Seizures Uncommon - Between 30% and 50% cases
Dementia Uncommon - Between 30% and 50% cases
Sensory impairment Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Intellectual disability Peripheral neuropathy Memory impairment Choreoathetosis Mental deterioration Migraine Confusion Irritability Myoclonus Dyskinesia Tremor Hallucinations Distal sensory impairment Behavioral abnormality Dysarthria Muscle weakness Headache Hearing impairment

Rare Symptoms - Less than 30% cases


Pain Neurodegeneration Gliosis Cerebral atrophy Personality changes Impulsivity Delusions Visual hallucinations Urinary incontinence Nystagmus Apathy Pes cavus Gait ataxia Distal amyotrophy Difficulty walking Areflexia Skeletal muscle atrophy Limb muscle weakness Lower limb muscle weakness Unsteady gait Peripheral axonal neuropathy Sensorimotor neuropathy Depressivity Impaired vibration sensation in the lower limbs Lower limb spasticity Frequent falls Global developmental delay Falls Intellectual disability, moderate Autoimmunity Visual impairment Neuronal loss in central nervous system Paralysis Abnormal pyramidal sign Diplopia Paroxysmal dyskinesia Clonus Abnormality of movement Paraplegia Generalized tonic-clonic seizures Spastic paraplegia Involuntary movements Dysesthesia Gait disturbance Anemia Episodic ataxia Dystonia Babinski sign Abnormal nerve conduction velocity Abnormality of peripheral nerve conduction Poor fine motor coordination Abnormality of hand joint mobility Visual loss Ankle clonus Urinary bladder sphincter dysfunction Urinary urgency Gait imbalance Lower limb hyperreflexia Neoplasm Hammertoe Absent Achilles reflex Distal lower limb amyotrophy Proximal muscle weakness Abnormality of the nervous system Hyperlordosis Distal muscle weakness Cough Abnormality of the foot Broad-based gait Myositis Varicose veins Scapular winging Toe walking Amyotrophic lateral sclerosis Abnormal joint morphology Upper limb spasticity Impaired vibratory sensation Constipation Spastic gait Hemiparesis Upper motor neuron dysfunction Extrapyramidal muscular rigidity Anxiety Knee clonus Loss of facial expression Arthralgia Abnormal cerebellum morphology Normal pressure hydrocephalus Reduced visual acuity Supranuclear gaze palsy Cerebral visual impairment Truncal ataxia Language impairment Aphasia Blurred vision Visual field defect Increased CSF protein Rigidity Hirano bodies Muscle fibrillation CNS demyelination Scarring Parkinsonism Muscle stiffness Hyperkinesis Incoordination Emotional lability Brain neoplasm Small hand Rod-cone dystrophy Scoliosis Urinary hesitancy Cataract Hydrocephalus Blindness Myopathy Recurrent infections Encephalopathy Flexion contracture Areflexia of lower limbs Focal-onset seizure Dyspnea Malabsorption of Vitamin B12 Reduced consciousness/confusion Proteinuria Malabsorption Thyroiditis Megaloblastic anemia Poikiloderma Vitamin B12 deficiency Sensorineural hearing impairment Abnormality of vision Hyporeflexia Hyperhidrosis Sensory neuropathy Abnormal autonomic nervous system physiology Progressive hearing impairment Osteomyelitis Global brain atrophy Severe hearing impairment Dysphasia Nausea and vomiting Axonal loss Spastic paraparesis Stroke Coma Cerebral hemorrhage Abnormality of the cerebral vasculature Postural instability Dehydration Paraparesis Brisk reflexes Abnormality of the eye Progressive spastic paraplegia Morphological abnormality of the pyramidal tract Progressive spastic paraparesis Paroxysmal choreoathetosis Muscular hypotonia Fatigue Hypertonia Deeply set eye Decreased number of peripheral myelinated nerve fibers Neurofibrillary tangles Elevated serum creatine phosphokinase Torsion dystonia Hemiplegia Focal impaired awareness seizure Atonic seizures Hyperactive deep tendon reflexes Reticulocytosis Hand tremor Action tremor Abnormality of the head Absence seizures Migraine without aura Limb dysmetria Paroxysmal dystonia Jerky head movements Focal aware seizure Upper limb dysmetria Hypoglycorrhachia Generalized tonic-clonic seizures without focal onset Slurred speech Horizontal nystagmus Onion bulb formation Microcephaly Lewy bodies Diffuse cerebral atrophy Excessive daytime somnolence Sensory ataxia Delirium Cataplexy Narcolepsy Generalized hypotonia Intellectual disability, mild Progressive microcephaly EEG abnormality Aggressive behavior Dysmetria Hemolytic anemia Chorea Specific learning disability Generalized-onset seizure Limb ataxia Ankle weakness



If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Anal atresia, related diseases and genetic alterations Melanoma and Hematuria, related diseases and genetic alterations Hepatomegaly and Umbilical hernia, related diseases and genetic alterations High palate and High myopia, related diseases and genetic alterations

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more