Cognitive impairment, and Optic disc pallor

Diseases related with Cognitive impairment and Optic disc pallor

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

Top matches:

Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies is a rare, genetic, retinal dystrophy disorder characterized by decreased central retinal sensitivity associated with hyper-reflectivity of ganglion cells and nerve fiber layer with loss of optic nerve fibers manifesting with fotophobia, optic disc pallor and progressive loss of central vision with preservation of peripheral visual field.

RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ANOMALIES Is also known as retinal dystrophy with inner nuclear layer and ganglion cell anomalies

Related symptoms:

  • Dementia
  • Photophobia
  • Pallor
  • Nyctalopia
  • Retinal dystrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about RETINAL DYSTROPHY WITH INNER RETINAL DYSFUNCTION AND GANGLION CELL ANOMALIES

Related symptoms:

  • Cognitive impairment
  • Anemia
  • Blindness
  • Visual loss
  • Rod-cone dystrophy


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA 79; RP79

Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected.

AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY Is also known as autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency|scar18

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CONGENITAL CEREBELLAR ATAXIA DUE TO GRID2 DEFICIENCY

Other less relevant matches:

Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME Is also known as spoan|spg68|autosomal recessive spastic paraplegia type 68

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME

Early infantile epileptic encephalopathy-47 is a neurologic disorder characterized by onset of intractable seizures in the first days or weeks of life. EEG shows background slowing and multifocal epileptic spikes, and may show hypsarrhythmia. Most patients have developmental regression after seizure onset and show persistent intellectual disability and neurologic impairment, although the severity is variable. Treatment with phenytoin, a voltage-gated sodium channel blocker, may be beneficial (summary by Guella et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 47; EIEE47

Mitochondrial complex III deficiency, nuclear type 8, is an autosomal recessive disorder characterized by progressive neurodegeneration with onset in childhood. Affected individuals may have normal or delayed early development, and often have episodic acute neurologic decompensation and regression associated with febrile illnesses. The developmental regression results in variable intellectual disability and motor deficits, such as hypotonia, axial hypertonia, and spasticity; some patients may lose the ability to walk independently. Laboratory studies show increased serum lactate and isolated deficiency of mitochondrial complex III in skeletal muscle and fibroblasts. Brain imaging shows a characteristic pattern of multifocal small cystic lesions in the periventricular and deep cerebral white matter (summary by Dallabona et al., 2016).For a discussion of genetic heterogeneity of mitochondrial complex III deficiency, see MC3DN1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL COMPLEX III DEFICIENCY, NUCLEAR TYPE 8; MC3DN8

Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75 Is also known as spg75

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75

Hereditary motor and sensory neuropathy type VI is an autosomal dominant neurologic disorder characterized by peripheral neuropathy and optic atrophy (summary by Voo et al., 2003). Genetic Heterogeneity of Hereditary Motor and Sensory Neuropathy Type VISee also HMSN6B (OMIM ), caused by mutation in the SLC25A46 gene (OMIM ) on chromosome 5q22.For a general phenotypic description and a discussion of genetic heterogeneity of CMT, see CMT1B (OMIM ).

HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6 Is also known as peripheral neuropathy and optic atrophy|charcot-marie-tooth disease, type 6a|cmt6|hmsn via|cmt6a|charcot-marie-tooth disease, type 6|hmsn6|neuropathy, hereditary motor and sensory, type vi|charcot-marie-tooth disease type 6

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6

The autosomal dominant cerebellar degenerative disorders are generally referred to as 'spinocerebellar ataxias,' (SCAs) even though 'spinocerebellar' is a hybrid term, referring to both clinical signs and neuroanatomical regions (Margolis, 2003). Neuropathologists have defined SCAs as cerebellar ataxias with variable involvement of the brainstem and spinal cord, and the clinical features of the disorders are caused by degeneration of the cerebellum and its afferent and efferent connections, which involve the brainstem and spinal cord (Schols et al., 2004; Taroni and DiDonato, 2004).Historically, Harding (1982) proposed a clinical classification for autosomal dominant cerebellar ataxias (ADCAs). ADCA I was characterized by cerebellar ataxia in combination with various associated neurologic features, such as ophthalmoplegia, pyramidal and extrapyramidal signs, peripheral neuropathy, and dementia, among others. ADCA II was characterized by the cerebellar ataxia, associated neurologic features, and the additional findings of macular and retinal degeneration. ADCA III was a pure form of late-onset cerebellar ataxia without additional features. SCA1, SCA2 (OMIM ), and SCA3, or Machado-Joseph disease (OMIM ), are considered to be forms of ADCA I. These 3 disorders are characterized at the molecular level by CAG repeat expansions on 6p24-p23, 12q24.1, and 14q32.1, respectively. SCA7 (OMIM ), caused by a CAG repeat expansion in the ATXN7 gene (OMIM ) on chromosome 3p13-p12, is a form of ADCA II. SCA5 (OMIM ), SCA31 (OMIM ), SCA6 (OMIM ), and SCA11 (OMIM ) are associated with phenotypes most suggestive of ADCA III. However, Schelhaas et al. (2000) noted that there is significant phenotypic overlap between different forms of SCA as well as significant phenotypic variability within each subtype.Classic reviews of olivopontocerebellar atrophies and of inherited ataxias in general include those of Konigsmark and Weiner (1970), who identified 5 types of olivopontocerebellar atrophy, Berciano (1982), Harding (1993), Schelhaas et al. (2000), and Margolis (2003).

SPINOCEREBELLAR ATAXIA 1; SCA1 Is also known as opca i|opca1|opca4|olivopontocerebellar atrophy i|spinocerebellar atrophy i|opca iv|menzel type opca|olivopontocerebellar atrophy iv|cerebelloparenchymal disorder i|schut-haymaker type opca|cpd1

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Muscular hypotonia
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 1; SCA1

CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION Is also known as neurodegeneration with brain iron accumulation type 1, classic form|nbia1, classic form|pkan, classic form

Related symptoms:

  • Seizures
  • Global developmental delay
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC PANTOTHENATE KINASE-ASSOCIATED NEURODEGENERATION

Top 5 symptoms//phenotypes associated to Cognitive impairment and Optic disc pallor

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Cognitive impairment and Optic disc pallor. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Spasticity Intellectual disability Optic atrophy Hyporeflexia Hyperreflexia Peripheral neuropathy Difficulty walking Cerebellar atrophy Skeletal muscle atrophy Distal amyotrophy Babinski sign Seizures Reduced visual acuity Neurodegeneration Areflexia Dysmetria Spastic paraplegia Paraplegia Limb ataxia

Rare Symptoms - Less than 30% cases

Sensory neuropathy Pes cavus Peripheral axonal neuropathy Dysmetric saccades Dystonia Dysphagia Abnormality of extrapyramidal motor function Hypertonia Sensorimotor neuropathy Distal lower limb amyotrophy Hyporeflexia of lower limbs Photophobia Ventriculomegaly Decreased motor nerve conduction velocity Impaired vibratory sensation Spastic gait Scoliosis Abnormal cerebellum morphology Ophthalmoplegia Developmental regression Inability to walk Muscle weakness Encephalopathy Dementia Anemia Truncal ataxia Nyctalopia Blindness Pallor Retinal dystrophy Flexion contracture Retinal degeneration Poor speech Rod-cone dystrophy Central scotoma Visual loss Dysdiadochokinesis Incoordination Gaze-evoked nystagmus Abnormality of color vision Anosmia Tinnitus Steppage gait Abnormality of visual evoked potentials Scotoma Progressive visual loss Motor polyneuropathy Paraparesis Leukodystrophy Positive Romberg sign Clonus Lumbar hyperlordosis Polyneuropathy Sensory impairment Sensorineural hearing impairment Spastic dysarthria Areflexia of lower limbs Titubation Impaired distal vibration sensation Temporal optic disc pallor Hearing impairment Proximal muscle weakness Corpus callosum atrophy Mental deterioration Vocal cord paresis Distal muscle weakness Spastic paraparesis Limb muscle weakness Distal sensory impairment Leber optic atrophy Functional motor deficit Axonal degeneration/regeneration Increased susceptibility to fractures Weight loss Attention deficit hyperactivity disorder Cough Pigmentary retinopathy Frequent falls Muscle stiffness Toe walking Decreased amplitude of sensory action potentials Mask-like facies Opisthotonus Aspiration pneumonia Generalized dystonia Abnormality of the tongue Abnormal posturing Eye of the tiger anomaly of globus pallidus Dorsal column degeneration Spinocerebellar atrophy Slow decrease in visual acuity Urinary bladder sphincter dysfunction Distal sensory impairment of all modalities Mild neurosensory hearing impairment Progressive cerebellar ataxia Chorea Neuronal loss in central nervous system Fasciculations Bulbar palsy Slow saccadic eye movements Impaired horizontal smooth pursuit Spinocerebellar tract degeneration Olivopontocerebellar atrophy Dilated fourth ventricle Scanning speech Tongue atrophy Supranuclear ophthalmoplegia Decreased sensory nerve conduction velocity Muscular hypotonia Neonatal hypotonia Astigmatism Gait ataxia Exaggerated startle response Hyperreflexia proximally Microcephaly Feeding difficulties Delayed speech and language development Visual impairment Absent speech Abnormality of eye movement Constipation Autism EEG abnormality Muscular hypotonia of the trunk Chorioretinal degeneration Severe global developmental delay Macular atrophy Neurological speech impairment Motor axonal neuropathy Epileptic encephalopathy Apraxia Motor delay Rotary nystagmus Cerebellar vermis atrophy Kyphosis Oculomotor apraxia Hyperhidrosis Horizontal nystagmus Esotropia Impaired vibration sensation in the lower limbs Brain atrophy Unsteady gait Delayed gross motor development Sensory axonal neuropathy Multiple joint contractures Progressive spastic paraplegia Decreased number of peripheral myelinated nerve fibers Focal-onset seizure Hypsarrhythmia Hypermetropia Failure to thrive in infancy Tetraparesis Progressive neurologic deterioration Exotropia Spastic tetraparesis External ophthalmoplegia Leukoencephalopathy Stridor Lactic acidosis Brisk reflexes Abnormality of the periventricular white matter Glaucoma Pain Intellectual disability, moderate Abnormal pyramidal sign Abnormality of the cerebral white matter Increased serum lactate Lethargy Status epilepticus Failure to thrive Postnatal microcephaly Hypohidrosis Cerebral visual impairment Abnormal autonomic nervous system physiology Arnold-Chiari type I malformation Chronic constipation Multifocal epileptiform discharges Constriction of peripheral visual field Irritability Exercise intolerance Hypoplasia of the corpus callosum Abnormality of skin pigmentation Cerebral atrophy Respiratory failure Dyspnea Acidosis Iron accumulation in brain


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Hepatomegaly and Growth hormone deficiency, related diseases and genetic alterations Fever and Ventricular septal defect, related diseases and genetic alterations Hyperreflexia and Cerebellar vermis hypoplasia, related diseases and genetic alterations Cryptorchidism and Prostate cancer, related diseases and genetic alterations Peripheral neuropathy and Ascites, related diseases and genetic alterations Microcephaly and Dysarthria, related diseases and genetic alterations