Cataract, and Gait ataxia

Diseases related with Cataract and Gait ataxia

In the following list you will find some of the most common rare diseases related to Cataract and Gait ataxia that can help you solving undiagnosed cases.


Top matches:

Low match SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24


Related symptoms:

  • Ataxia
  • Growth delay
  • Nystagmus
  • Cataract
  • Delayed speech and language development


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 24; SCAR24

Low match AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B


Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts.

AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B Is also known as cmtdib|cmtdi1|charcot-marie-tooth neuropathy, dominant intermediate b|di-cmtb

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Cataract
  • Peripheral neuropathy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE B

Low match DYSEQUILIBRIUM SYNDROME


Dysequilibrium syndrome (DES) is a non-progressive cerebellar disorder characterized by ataxia associated with an intellectual disability, delayed ambulation and cerebellar hypoplasia.

DYSEQUILIBRIUM SYNDROME Is also known as cerebellar ataxia-intellectual disability-dysequilibrium syndrome syndrome|cerebellar hypoplasia, vldlr-associated|non-progressive cerebellar ataxia-intellectual disability syndrome|cerebellar ataxia and mental retardation with or without quadrupedal loco

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about DYSEQUILIBRIUM SYNDROME

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Other less relevant matches:

Low match ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA


Autosomal recessive spinocerebellar ataxia-10 is an autosomal recessive neurodegenerative disorder with onset in the teenage or young adult years of gait and limb ataxia, dysarthria, and nystagmus associated with marked cerebellar atrophy on brain imaging (summary by Vermeer et al., 2010). Some patients have low levels of coenzyme Q10 (CoQ10) in muscle and may show some clinical improvement with CoQ10 treatment (Balreira et al., 2014).

ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA Is also known as scar10|autosomal recessive spinocerebellar ataxia type 10

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Nystagmus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about ADULT-ONSET AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA

Low 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

Low match POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME


Fiskerstrand type peripheral neuropathy is a slowly-progressive Refsum-like disorder associating signs of peripheral neuropathy with late-onset hearing loss, cataract and pigmentary retinopathy that become evident during the third decade of life.

POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME Is also known as peripheral neuropathy, fiskerstrand type|pharc syndrome

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about POLYNEUROPATHY-HEARING LOSS-ATAXIA-RETINITIS PIGMENTOSA-CATARACT SYNDROME

Low match SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME


Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome is characterised by adult-onset severe sensory ataxic neuropathy, dysarthria and chronic progressive external ophthalmoplegia.

SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME Is also known as sando

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about SENSORY ATAXIC NEUROPATHY-DYSARTHRIA-OPHTHALMOPARESIS SYNDROME

Low match PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS


PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS Is also known as lipodystrophy, partial, with congenital cataracts and neurodegeneration

Related symptoms:

  • Ataxia
  • Nystagmus
  • Micrognathia
  • Cataract
  • Babinski sign


SOURCES: OMIM MENDELIAN

More info about PARTIAL LIPODYSTROPHY, CONGENITAL CATARACTS, AND NEURODEGENERATION SYNDROME; LCCNS

Low match AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3


The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training.

AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3 Is also known as cpd iii|scar2|cpd3|cerebellar granular cell hypoplasia and mental retardation, congenital|autosomal recessive spinocerebellar ataxia type 2|cerebellar hypoplasia, nonprogressive norman type|cerebelloparenchymal disorder iii

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLOPARENCHYMAL DISORDER TYPE 3

Top 5 symptoms//phenotypes associated to Cataract and Gait ataxia

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Dysmetria Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Cataract and Gait ataxia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Tremor Hyperreflexia Pes cavus Intention tremor Spasticity Intellectual disability Seizures Gait disturbance Limb ataxia Peripheral neuropathy Hyporeflexia Motor delay Babinski sign Unsteady gait Broad-based gait Microcephaly Truncal ataxia Distal sensory impairment Short stature Global developmental delay Delayed speech and language development

Rare Symptoms - Less than 30% cases


Intellectual disability, moderate Saccadic smooth pursuit Rod-cone dystrophy Progressive cerebellar ataxia Behavioral abnormality Muscular hypotonia Areflexia Micrognathia Generalized hypotonia Hearing impairment Sensorineural hearing impairment Blindness Dysdiadochokinesis Brisk reflexes Gaze-evoked nystagmus Nonprogressive cerebellar ataxia Distal amyotrophy Abnormal cerebellum morphology Gliosis Paresthesia Lower limb muscle weakness Cerebellar hypoplasia Pes planus Spastic gait Stuttering Achilles tendon contracture Visual field defect Retinopathy Congenital cataract Hypotension Pigmentary retinopathy Epidermal acanthosis Hypertriglyceridemia Abnormality of the face Posterior subcapsular cataract Blurred vision Subcapsular cataract Extrapyramidal muscular rigidity Muscle fibrillation Increased CSF protein Delusions Visual hallucinations Supranuclear gaze palsy Dysesthesia Normal pressure hydrocephalus Loss of facial expression Hirano bodies Hammertoe Flexion contracture Optic atrophy Nyctalopia Retinal degeneration Polyneuropathy Clonus Generalized myoclonic seizures Sensorimotor neuropathy Decreased nerve conduction velocity Insulin resistance Malabsorption Pancreatitis Retrognathia High palate Feeding difficulties Myopia Intrauterine growth retardation Ventricular septal defect Hypospadias Micropenis Autism Astigmatism Cleft palate Hypotelorism Rhizomelia Coxa valga Accelerated skeletal maturation Scrotal hypoplasia Metaphyseal widening 2-3 toe syndactyly Scaphocephaly Obstructive sleep apnea Cryptorchidism Failure to thrive Acanthosis nigricans Decreased adipose tissue around neck Hyperlipidemia Hypercholesterolemia Lipodystrophy Glucose intolerance Orthostatic hypotension Absence of subcutaneous fat Loss of subcutaneous adipose tissue in limbs Lack of facial subcutaneous fat Scoliosis Dilated fourth ventricle Personality changes Hypopigmentation of the skin Incoordination Hyperactive deep tendon reflexes Ocular albinism Enlarged cisterna magna Generalized hypopigmentation White hair Abnormality of the retinal vasculature Aphasia Headache Apathy Abnormality of the eye Strabismus Cognitive impairment Skeletal muscle atrophy Intellectual disability, severe Abnormality of metabolism/homeostasis Absent speech Neonatal hypotonia Poor speech Peripheral axonal degeneration Abnormality of movement Arachnodactyly Pachygyria Cerebral palsy Abnormality of vision Hypoplasia of the brainstem Toe walking Cortical gyral simplification Segmental peripheral demyelination Segmental peripheral demyelination/remyelination Fatigue Neutropenia Muscle weakness Edema Distal muscle weakness Limb muscle weakness Abnormality of the foot Peripheral axonal neuropathy Falls Sensory neuropathy Sensory impairment Sensory ataxia Peripheral demyelination Frequent falls Glomerulosclerosis Steppage gait Focal segmental glomerulosclerosis Axonal degeneration Decreased number of peripheral myelinated nerve fibers Onion bulb formation Ptosis Intellectual disability, mild Language impairment Paralysis Encephalopathy Dementia Myoclonus Reduced visual acuity Rigidity Anxiety Mental deterioration Irritability Abnormal pyramidal sign Recurrent infections Confusion Neurodegeneration Memory impairment Neuronal loss in central nervous system Hemiparesis Choreoathetosis Hallucinations Cerebral visual impairment Depressivity Growth delay Retinal detachment Progressive gait ataxia Generalized-onset seizure Diplopia Fasciculations Horizontal nystagmus EMG abnormality Macular degeneration Slurred speech Ankle clonus Slow saccadic eye movements Myopathy Dysmetric saccades Leg muscle stiffness Hypermetric saccades Downbeat nystagmus Abnormal enzyme/coenzyme activity Tortuosity of conjunctival vessels Visual impairment Hydrocephalus Broad femoral neck



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