Cognitive impairment, and Tetraplegia

Diseases related with Cognitive impairment and Tetraplegia

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


Top matches:

High match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Medium match ATAXIA-OCULOMOTOR APRAXIA TYPE 4


Ataxia-oculomotor apraxia-4 is an autosomal recessive neurologic disorder characterized by onset of dystonia and ataxia in the first decade. Additional features include oculomotor apraxia and peripheral neuropathy. Some patients may show cognitive impairment. The disorder is progressive, and most patients become wheelchair-bound in the second or third decade (summary by Bras et al., 2015).For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (OMIM ).

ATAXIA-OCULOMOTOR APRAXIA TYPE 4 Is also known as aoa4

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cognitive impairment
  • Peripheral neuropathy
  • Cerebellar atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA TYPE 4

Medium match ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2


Alternating hemiplegia of childhood is a rare syndrome characterized by infantile onset of episodic hemi-or quadriplegia. Most cases are accompanied by dystonic posturing, choreoathetoid movements, abnormal ocular movements, developmental delay, and progressive cognitive impairment (summary by Heinzen et al., 2012).For discussion of genetic heterogeneity of alternating hemiplegia of childhood, see AHC1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about ALTERNATING HEMIPLEGIA OF CHILDHOOD 2; AHC2

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Other less relevant matches:

Medium match EARLY-ONSET LAFORA BODY DISEASE


Early-onset Lafora body disease is an extremely rare, inherited form of progressive myoclonic epilepsy characterized by progressive myoclonus epilepsy and Lafora bodies, with an early onset (at around 5 years) and a prolonged disease course. Other manifestations include progressive dysarthria, ataxia, cognitive decline, psychosis, dementia, spasticity, dysarthria, myoclonus, and ataxia. The disease course typically extends for several decades.

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET LAFORA BODY DISEASE

Medium match BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES


Benign familial neonatal-infantile seizures (BFNIS) is a benign familial epilepsy syndrome with an intermediate phenotype between benign familial neonatal seizures (BFNS) and benign familial infantile seizures (BFIS; see these terms). So far, this syndrome has been described in multiple members of 10 families. Age of onset in these BFNIS families varied from 2 days to 6 months, with spontaneous resolution in most cases before the age of 12 months. Like BFNS and BFIS, seizures in BFNIS generally occur in clusters over one or a few days with posterior focal seizure onset. BFNIS is caused by mutations in the SCN2A gene (2q24.3), encoding the voltage-gated sodium channel alpha-subunit Na(V)1.2. Transmission is autosomal dominant.

BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES Is also known as bfnis|benign neonatal-infantile epilepsy

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about BENIGN FAMILIAL NEONATAL-INFANTILE SEIZURES

Medium match COASY PROTEIN-ASSOCIATED NEURODEGENERATION


COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.

COASY PROTEIN-ASSOCIATED NEURODEGENERATION Is also known as copan|neurodegeneration with brain iron accumulation due to coasy mutation|nbia6

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about COASY PROTEIN-ASSOCIATED NEURODEGENERATION

Medium match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53; EIEE53


Early infantile epileptic encephalopathy-53 is a severe neurodegenerative disorder characterized by onset of intractable seizures in infancy. Affected individuals show hypotonia and very poor or absent global development, resulting in severe intellectual disability and spastic quadriplegia. Some patients may die in childhood (summary by Hardies et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Feeding difficulties
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 53; EIEE53

Medium match CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3


Related symptoms:

  • Seizures
  • Global developmental delay
  • Microcephaly
  • Nystagmus
  • Strabismus


SOURCES: OMIM MENDELIAN

More info about CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3; CPSQ3

Medium match COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT


Cobblestone lissencephaly without muscular or ocular involvement is a form of cobblestone lissencephaly characterized by a constellation of brain malformations which can either exist alone or in conjunction with minimal muscular and ocular abnormalities. The clinical features of the disease include severe developmental delay, increased head circumference, hydrocephalus and seizures.

COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT Is also known as lissencephaly type 2 without muscular or ocular involvement|lissencephaly type 2 without muscular or eye involvement|cobblestone lissencephaly without muscular or eye involvement

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about COBBLESTONE LISSENCEPHALY WITHOUT MUSCULAR OR OCULAR INVOLVEMENT

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78


AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78 Is also known as spg78

Related symptoms:

  • Strabismus
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78

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

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Spastic tetraplegia Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
Dystonia Uncommon - Between 30% and 50% cases
Mental deterioration Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Generalized hypotonia Intellectual disability Global developmental delay Ataxia Dementia Tetraparesis Hypoplasia of the corpus callosum Nystagmus Spasticity

Rare Symptoms - Less than 30% cases


Hyperreflexia Paraplegia Spastic paraplegia Hemiplegia Difficulty walking Myoclonus Behavioral abnormality Hypsarrhythmia Progressive cerebellar ataxia Epileptic encephalopathy Spastic tetraparesis Hallucinations Skeletal muscle atrophy Supranuclear gaze palsy Peripheral axonal neuropathy Neurodegeneration Status epilepticus Rigidity Peripheral neuropathy Cerebellar atrophy Areflexia Progressive neurologic deterioration Depressivity Progressive spastic quadriplegia Strabismus Parkinsonism Abnormal pyramidal sign Encephalopathy Heterotopia Macrocephaly Elevated serum creatine phosphokinase Cataract Muscular hypotonia Hearing impairment Gliosis Conjugated hyperbilirubinemia Microcephaly Increased serum lactate Intellectual disability, profound Poor speech Exotropia Spastic diplegia Hyperbilirubinemia Dysphagia Optic atrophy Encephalocele Gait disturbance Type II lissencephaly Progressive extrapyramidal movement disorder Progressive pes cavus Facial myokymia Neurogenic bladder Progressive gait ataxia Abnormality of the periventricular white matter Progressive spastic paraplegia Sensory axonal neuropathy Horizontal nystagmus Cerebral cortical atrophy Babinski sign Right hemiplegia Gray matter heterotopias Porencephalic cyst Hydrocephalus Occipital encephalocele Infantile spasms Hypoplasia of the brainstem Leukoencephalopathy Lissencephaly Absence seizures Feeding difficulties Abnormal cerebellum morphology Coma Polymicrogyria Abnormality of the cerebral white matter Severe global developmental delay Muscular dystrophy Cerebellar hypoplasia Visual impairment Developmental regression Abnormal caudate nucleus morphology Migraine Psychosis Urinary incontinence Generalized myoclonic seizures Falls Confusion Episodic quadriplegia Loss of consciousness Abnormal autonomic nervous system physiology Choreoathetosis Hemiparesis Generalized-onset seizure Chorea Mutism Abnormality of movement Abnormality of eye movement Generalized tonic-clonic seizures Abnormality of the eye Anxiety Headache Impaired vibratory sensation Oculomotor apraxia Apraxia Muscle weakness Hypertonia Frequent falls Spastic ataxia Eye of the tiger anomaly of globus pallidus Bradykinesia Abnormality of thalamus morphology Abnormal corpus striatum morphology Motor tics Abnormal globus pallidus morphology Oromandibular dystonia Tics Motor axonal neuropathy Toe walking Obsessive-compulsive behavior Spastic paraparesis Paraparesis Distal amyotrophy Paranoia Pes cavus Hyporeflexia Abnormal myelination Myokymia Dysmetria Intellectual disability, moderate Muscular hypotonia of the trunk Abnormality of the nervous system EEG abnormality Intellectual disability, mild Intellectual disability, severe Lafora bodies EMG: axonal abnormality



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