Cognitive impairment, and Polyneuropathy

Diseases related with Cognitive impairment and Polyneuropathy

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


Top matches:

Medium match SPINOCEREBELLAR ATAXIA TYPE 23


Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.

SPINOCEREBELLAR ATAXIA TYPE 23 Is also known as sca23

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 23

Medium match METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY


METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY Is also known as saposin b deficiency|metachromatic leukodystrophy due to cerebroside sulfatase activator deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: MESH OMIM MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY DUE TO SAPOSIN B DEFICIENCY

Medium match NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES; CONDSIAS


Stress-induced childhood-onset neurodegeneration with variable ataxia and seizures (CONDSIAS) is an autosomal recessive neurodegenerative disorder with onset in the first years of life following normal early development. Patient have cyclic episodic deterioration in response to stress, such as infection or febrile illness. The severity is highly variable: some patients develop seizures early in life that are associated with loss of developmental milestones and early sudden death in childhood, whereas others present at a later age with muscle weakness, gait ataxia, impaired speech, more subtle clinical deterioration, and cognitive decline. Neurologic involvement includes gait ataxia, cerebellar signs associated with cerebellar atrophy, generalized brain atrophy, impaired intellectual development, hearing loss, and peripheral neuropathy (summary by Ghosh et al., 2018).

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION, CHILDHOOD-ONSET, STRESS-INDUCED, WITH VARIABLE ATAXIA AND SEIZURES; CONDSIAS

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Other less relevant matches:

Medium match SPINOCEREBELLAR ATAXIA 10; SCA10


The autosomal dominant cerebellar ataxias (ADCAs) are a clinically and genetically heterogeneous group of disorders characterized by ataxia, dysarthria, dysmetria, and intention tremor. All ADCAs involve some degree of cerebellar dysfunction and a varying degree of signs from other components of the nervous system. A commonly accepted clinical classification (Harding, 1993) divides ADCAs into 3 different groups based on the presence or absence of associated symptoms such as brainstem signs or retinopathy. The presence of pyramidal and extrapyramidal symptoms and ophthalmoplegia makes the diagnosis of ADCA I, the presence of retinopathy points to ADCA II, and the absence of associated signs to ADCA III. Genetic linkage and molecular analyses revealed that ADCAs are genetically heterogeneous even within the various subtypes.For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Cognitive impairment
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 10; SCA10

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

Medium match CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3


Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss).

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3 Is also known as charcot-marie-tooth disease with focally folded myelin|cmt4b3

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Ataxia
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B3

Medium match HEREDITARY MOTOR AND SENSORY NEUROPATHY TYPE 6


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

Medium match NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME


Primary coenzyme Q10 deficiency-7 is an autosomal recessive disorder resulting from mitochondrial dysfunction. Most patients have onset of severe cardiac or neurologic symptoms soon after birth, usually resulting in death. Rare patients may have later onset with a more protracted course. Tissue samples from affected individuals show decreased levels of coenzyme Q10 (CoQ10) (summary by Brea-Calvo et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of primary coenzyme Q10 deficiency, see COQ10D1 (OMIM ).

NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME Is also known as coq4-related neonatal encephalomyopathy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Feeding difficulties
  • Intrauterine growth retardation


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEONATAL ENCEPHALOMYOPATHY-CARDIOMYOPATHY-RESPIRATORY DISTRESS SYNDROME

Medium match MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY


Mitochondrial DNA depletion syndrome-8A is a severe autosomal recessive disorder characterized by neonatal hypotonia, lactic acidosis, and neurologic deterioration. Renal tubular involvement may also occur (Bourdon et al., 2007).Mitochondrial DNA depletion syndrome-8B is characterized by ophthalmoplegia, ptosis, gastrointestinal dysmotility, cachexia, peripheral neuropathy, and brain MRI changes, known as the MNGIE phenotype (Shaibani et al., 2009).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY Is also known as mitochondrial dna depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive|mtdna depletion syndrome, encephalomyopathic form with renal tubulopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive


SOURCES: ORPHANET OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM WITH RENAL TUBULOPATHY

Medium match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A2


Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subtype of Autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by the childhood onset of distal weakness and areflexia (with earlier and more severe involvement of the lower extremities), reduced sensory modalities (primarily pain and temperature sensation), foot deformities, postural tremor, scoliosis and contractures. Optic atrophy, vocal cord palsy with dysphonia, sensorineural hearing loss, spinal cord abnormalities and hydrocephalus have also been reported.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A2 Is also known as cmt2a2|hmsn2a2|hereditary motor and sensory neuropathy iia2|charcot-marie-tooth disease, neuronal, type 2a2|hmsn iia2|charcot-marie-tooth disease, axonal, type 2a2|charcot-marie-tooth neuropathy, type 2a2

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2A2

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

Symptoms // Phenotype % cases
Dysarthria Common - Between 50% and 80% cases
Gait ataxia Common - Between 50% and 80% cases
Peripheral neuropathy Common - Between 50% and 80% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Babinski sign Mental deterioration Muscle weakness Seizures Ataxia Areflexia Ophthalmoplegia Nystagmus Hearing impairment Scoliosis Tremor Abnormal pyramidal sign Abnormality of eye movement Decreased nerve conduction velocity Urinary incontinence Sensorineural hearing impairment Hyporeflexia Dysphagia Dysmetria Generalized hypotonia Dementia Pes cavus Strabismus Progressive cerebellar ataxia Limb muscle weakness Distal sensory impairment Sensorimotor neuropathy

Rare Symptoms - Less than 30% cases


Lactic acidosis Neonatal hypotonia Increased serum lactate Unsteady gait Acidosis Distal muscle weakness EEG abnormality Encephalopathy Skeletal muscle atrophy Optic atrophy Respiratory insufficiency Peripheral axonal neuropathy Feeding difficulties Axonal degeneration/regeneration Motor polyneuropathy Intellectual disability Spastic gait External ophthalmoplegia Pain Gait disturbance Decreased motor nerve conduction velocity Steppage gait Lower limb muscle weakness Sensory impairment Onion bulb formation Vomiting Distal amyotrophy Developmental regression Neuronal loss in central nervous system Abnormality of the periventricular white matter Global developmental delay Motor deterioration Peripheral demyelination Limb ataxia Sensory neuropathy Brain atrophy CNS demyelination Positive Romberg sign Dysmetric saccades Hypertonia Abnormality of visual evoked potentials Leber optic atrophy Central scotoma Abnormality of the foot Chorea Nausea and vomiting Scotoma Foot dorsiflexor weakness Vocal cord paresis Abnormal autonomic nervous system physiology Hammertoe Difficulty climbing stairs Decreased number of peripheral myelinated nerve fibers Difficulty running Degeneration of anterior horn cells Tinnitus Anosmia Decreased number of large peripheral myelinated nerve fibers Abnormality of color vision Distal sensory impairment of all modalities Flexion contracture Progressive muscle weakness Ptosis Failure to thrive Decreased activity of mitochondrial respiratory chain Astrocytosis Hypoplastic left heart Neonatal respiratory distress Nausea Abnormality of mitochondrial metabolism Generalized muscle weakness Bradycardia Progressive neurologic deterioration Epileptic encephalopathy Aminoaciduria Slow decrease in visual acuity Hypertrophic cardiomyopathy Ragged-red muscle fibers Cerebellar hypoplasia Patent ductus arteriosus Cachexia Cardiomyopathy Respiratory distress Gastrointestinal dysmotility Intrauterine growth retardation Proximal tubulopathy Spasticity Mild neurosensory hearing impairment Lumbar hyperlordosis Weight loss Neurogenic bladder Optic disc pallor Loss of speech Hypometric saccades Tongue fasciculations Developmental stagnation Mild global developmental delay Hypoventilation Axonal loss Global brain atrophy Fasciculations Abnormal cerebellum morphology Neurodegeneration Abnormality of the cerebral white matter Abnormality of the eye Respiratory failure Spastic hemiparesis Spastic tetraparesis Depressivity Leukodystrophy Hemiparesis Tetraparesis Muscular hypotonia Impaired distal vibration sensation Kinetic tremor Impaired proprioception Head tremor Slow saccadic eye movements Action tremor Impaired vibration sensation in the lower limbs Cerebellar vermis atrophy Impaired vibratory sensation Agenesis of corpus callosum Multifocal seizures Retinopathy Progressive visual loss Progressive gait ataxia Proximal muscle weakness Reduced visual acuity Visual loss Facial palsy Pes planus Glaucoma Syndactyly Microcephaly EMG: axonal abnormality Progressive extrapyramidal movement disorder Progressive pes cavus Facial myokymia Progressive spastic quadriplegia Supranuclear gaze palsy Progressive spastic paraplegia Focal-onset seizure Morphological abnormality of the pyramidal tract Abnormality of extrapyramidal motor function Intention tremor Incoordination Dysdiadochokinesis Personality changes Urinary urgency Scanning speech Sensory axonal neuropathy Hypoplasia of the corpus callosum Dystonia Cerebral cortical atrophy Difficulty walking Hallucinations Horizontal nystagmus Peripheral axonal atrophy



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