Cataract, and Dementia

Diseases related with Cataract and Dementia

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


Top matches:

Low match ADAN AMYLOIDOSIS


ADan amyloidosis is a rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.

ADAN AMYLOIDOSIS Is also known as heredopathia ophthalmootoencephalica|dementia, familial danish|hooe|cerebellar ataxia, cataract, deafness, and dementia or psychosis|familial dementia, danish type|fdd|familial danish dementia

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cataract
  • Spasticity
  • Tremor


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ADAN AMYLOIDOSIS

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 AMYOTROPHIC LATERAL SCLEROSIS


Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by progressive muscular paralysis reflecting degeneration of motor neurons in the primary motor cortex, corticospinal tracts, brainstem and spinal cord.

AMYOTROPHIC LATERAL SCLEROSIS Is also known as als|amyotrophic lateral sclerosis 1, autosomal dominant|fals|lou gehrig disease|charcot disease|amyotrophic lateral sclerosis 1, familial

Related symptoms:

  • Microcephaly
  • Muscle weakness
  • Pain
  • Cataract
  • Spasticity


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A


AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A Is also known as ad-spg9a|spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome|cataracts-motor neuropathy-short stature-skeletal anomalies syndrome

Related symptoms:

  • Seizures
  • Sensorineural hearing impairment
  • Muscle weakness
  • Tremor
  • Babinski sign


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 9A

Low match AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME


Autosomal dominant cerebellar ataxia, deafness and narcolepsy (ADCA-DN) is a polymorphic disorder and a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by ataxia, sensorineural deafness and narcolepsy with cataplexy and dementia.

AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME Is also known as adca-dn syndrome

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CEREBELLAR ATAXIA-DEAFNESS-NARCOLEPSY SYNDROME

Low match ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY


Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency is an extremely rare multiple mitochondrial DNA deletion syndrome with markedly decreased deoxyguanosine kinase (DGUOK) activity in skeletal muscle characterized by a highly variable phenotype. Clinical manifestations include progressive external ophthalmoplegia, mitochondrial myopathy, recurrent rhabdomyolysis, lower motor neuron disease, mild cognitive impairment, sensory axonal neuropathy, optic atrophy, ataxia, hypogonadism and/or parkinsonism.

ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY Is also known as adult-onset multiple mtdna deletion syndrome due to dguok deficiency|progressive external ophthalmoplegia, autosomal recessive 4

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Cataract
  • Ptosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about ADULT-ONSET MULTIPLE MITOCHONDRIAL DNA DELETION SYNDROME DUE TO DGUOK DEFICIENCY

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46


Autosomal recessive spastic paraplegia type 46 (SPG46) is a rare, complex type of hereditary spastic paraplegia characterized by an onset, in infancy or childhood, of the typical signs of spastic paraplegia (i.e. spastic gait and weakness of the lower limbs) associated with a variety of additional manifestations including upper limb spasticity and weakness, pseudobulbar dysarthria, bladder dysfunction, cerebellar ataxia, cataracts, and cognitive impairment that can progress to dementia. Brain imaging may show thinning of the corpus callosum and mild atrophy of the cerebrum and cerebellum. SPG46 is due to mutations in the GBA2 gene (9p13.2) encoding non-lysosomal glucosylceramidase.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46 Is also known as spg46

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 46

Low match CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3


The neuronal ceroid lipofuscinoses (NCL; CLN) are a clinically and genetically heterogeneous group of neurodegenerative disorders characterized by the intracellular accumulation of autofluorescent lipopigment storage material in different patterns ultrastructurally. The clinical course includes progressive dementia, seizures, and progressive visual failure (Mole et al., 2005).The hallmark of CLN3 is the ultrastructural pattern of lipopigment with a 'fingerprint' profile, which can have 3 different appearances: pure within a lysosomal residual body; in conjunction with curvilinear or rectilinear profiles; and as a small component within large membrane-bound lysosomal vacuoles. The combination of fingerprint profiles within lysosomal vacuoles is a regular feature of blood lymphocytes from patients with CLN3 (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3 Is also known as vogt-spielmeyer disease|batten disease|spielmeyer-sjogren disease|jncl|neuronal ceroid lipofuscinosis, juvenile

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Nystagmus
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 3; CLN3

Low match INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA


Inclusion body myopathy with Paget disease of bone and frontotemporal dementia (IBMPFD) is a multisystem degenerative genetic disorder characterized by adult-onset proximal and distal muscle weakness (clinically resembling limb-girdle muscular dystrophy; see this term); early-onset Paget disease of bone (see this term), manifesting with bone pain, deformity and enlargement of the long-bones; and premature frontotemporal dementia (see this term), manifesting first with dysnomia, dyscalculia and comprehension deficits followed by progressive aphasia, alexia, and agraphia. As the disease progresses, muscle weakness begins to affect the other limbs and respiratory muscles, ultimately resulting in respiratory or cardiac failure.

INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA Is also known as pagetoid neuroskeletal syndrome|msp1|pagetoid amyotrophic lateral sclerosis|multisystem proteinopathy 1|muscular dystrophy, limb-girdle, with paget disease of bone|limb-girdle muscular dystrophy with paget disease of bone|ibmpfd|lower motor neuron degener

Related symptoms:

  • Intellectual disability
  • Short stature
  • Muscle weakness
  • Cataract
  • Skeletal muscle atrophy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about INCLUSION BODY MYOPATHY WITH PAGET DISEASE OF BONE AND FRONTOTEMPORAL DEMENTIA

Low match MYOTONIC DYSTROPHY 1; DM1


Myotonic dystrophy is an autosomal dominant disorder characterized mainly by myotonia, muscular dystrophy, cataracts, hypogonadism, frontal balding, and ECG changes. The genetic defect in DM1 results from an amplified trinucleotide repeat in the 3-prime untranslated region of a protein kinase gene. Disease severity varies with the number of repeats: normal individuals have 5 to 37 repeats, mildly affected persons have 50 to 150 repeats, patients with classic DM have 100 to 1,000 repeats, and those with congenital onset can have more than 2,000 repeats. The disorder shows genetic anticipation, with expansion of the repeat number dependent on the sex of the transmitting parent. Alleles of 40 to 80 repeats are usually expanded when transmitted by males, whereas only alleles longer than 80 repeats tend to expand in maternal transmissions. Repeat contraction events occur 4.2 to 6.4% of the time (Musova et al., 2009). Genetic Heterogeneity of Myotonic DystrophySee also myotonic dystrophy-2 (DM2 ), which is caused by mutation in the ZNF9 gene (OMIM ) on chromosome 3q21.

MYOTONIC DYSTROPHY 1; DM1 Is also known as dystrophia myotonica 1|dystrophia myotonica|steinert disease|dm

Related symptoms:

  • Intellectual disability
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: OMIM MENDELIAN

More info about MYOTONIC DYSTROPHY 1; DM1

Top 5 symptoms//phenotypes associated to Cataract and Dementia

Symptoms // Phenotype % cases
Tremor Common - Between 50% and 80% cases
Spasticity Uncommon - Between 30% and 50% cases
Mental deterioration Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Hearing impairment Memory impairment Intellectual disability Cerebral cortical atrophy Cerebral atrophy Neuronal loss in central nervous system Cognitive impairment Depressivity Skeletal muscle atrophy Dysphagia Ataxia Abnormal cerebellum morphology Psychosis Hyperreflexia Myopathy Abnormal pyramidal sign Elevated serum creatine phosphokinase Babinski sign Sensorineural hearing impairment Seizures Nystagmus Cerebellar atrophy Abnormality of the cerebral white matter Encephalopathy Anxiety Fasciculations Respiratory failure Myoclonus Urinary incontinence

Rare Symptoms - Less than 30% cases


Corpus callosum atrophy Impaired vibration sensation in the lower limbs Spastic gait Spastic dysarthria Muscular hypotonia Pes cavus Alzheimer disease Frontotemporal dementia Amyotrophic lateral sclerosis Peripheral demyelination Motor neuron atrophy Sensory neuropathy Optic atrophy Proximal muscle weakness Cardiomyopathy Lower limb muscle weakness Gait disturbance Dystonia Mutism Peripheral axonal neuropathy Limb muscle weakness Distal muscle weakness Muscle cramps Progressive muscle weakness Dilatation Muscular dystrophy Brain atrophy Ptosis Narcolepsy Excessive daytime sleepiness Head tremor Generalized hypotonia Parkinsonism Dysarthria Behavioral abnormality Neurodegeneration Confusion Visual impairment Pain Unsteady gait Blindness Gliosis Aphasia Language impairment Muscle fibrillation Neurofibrillary tangles Truncal ataxia Paralysis EMG: myopathic abnormalities Abnormality of pelvic girdle bone morphology Elevated alkaline phosphatase Nausea and vomiting Scapular winging Back pain Osteolysis Tetraparesis Increased susceptibility to fractures Intention tremor Limb-girdle muscular dystrophy Spinal muscular atrophy Increased variability in muscle fiber diameter Sensory axonal neuropathy Waddling gait Dysphasia Generalized amyotrophy Difficulty climbing stairs Pathologic fracture Abnormality of the vertebral column Rimmed vacuoles Lumbar hyperlordosis Distal amyotrophy Posterior polar cataract Intracellular accumulation of autofluorescent lipopigment storage material Hydrocephalus Mildly elevated creatine phosphokinase Retinal atrophy Progressive encephalopathy Aspiration pneumonia Pendular nystagmus Undetectable electroretinogram Tapetoretinal degeneration Vegetative state Psychomotor deterioration Oromandibular dystonia Vacuolated lymphocytes Autophagic vacuoles Increased neuronal autofluorescent lipopigment Hepatic steatosis Concentric hypertrophic cardiomyopathy Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Presenile cataracts Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Cerebral degeneration Increased extraneuronal autofluorescent lipopigment Progressive inability to walk Short stature Ventriculomegaly Congestive heart failure Facial palsy Hyperlordosis Cerebral amyloid angiopathy Progressive proximal muscle weakness Urinary bladder sphincter dysfunction Shoulder girdle muscle weakness EMG: neuropathic changes Atrioventricular block Stroke Talipes Tachycardia Premature birth Mitral valve prolapse Decreased fetal movement Atrial fibrillation Hydrops fetalis Insulin resistance Cardiac arrest Spontaneous abortion Intellectual disability, progressive Ventricular tachycardia Cholelithiasis Myalgia Myotonia Thin ribs Centrally nucleated skeletal muscle fibers Abnormal EKG Heart block Facial diplegia Nonimmune hydrops fetalis Atrial flutter Testicular atrophy First degree atrioventricular block Frontal balding Obsessive-compulsive trait Percussion myotonia Feeding difficulties in infancy Neonatal hypotonia Motor axonal neuropathy Elevated alkaline phosphatase of bone origin Aspiration Upper motor neuron dysfunction Pelvic girdle muscle weakness Hip pain Shoulder girdle muscle atrophy EMG: chronic denervation signs Abnormality of calvarial morphology Dyscalculia Fatty replacement of skeletal muscle Calvarial hyperostosis Cranial nerve compression Pelvic girdle muscle atrophy Frontal cortical atrophy Scapuloperoneal weakness Polyhydramnios Semantic dementia Abnormality of long bone morphology Pelvic girdle amyotrophy Temporal cortical atrophy Ubiquitin-positive cerebral inclusion bodies Abnormal motor neuron morphology Weakness of muscles of respiration Delayed speech and language development Motor delay Respiratory distress Edema Intellectual disability, severe Arrhythmia Hypogonadism Macular degeneration Hypertrophic cardiomyopathy Clumsiness Hyperreflexia in upper limbs Visual hallucinations Horizontal nystagmus Urinary urgency Lower limb hyperreflexia Delusions Enlarged cisterna magna Increased CSF protein Low back pain Lower limb pain Lower limb hypertonia Pollakisuria Anarthria Abnormality of the dorsal column of the spinal cord Supranuclear gaze palsy Abnormality of pain sensation Visual field defect Blurred vision Personality changes Diabetes mellitus Abnormality of the nervous system Apathy Polyneuropathy Progressive cerebellar ataxia Lymphedema Abnormality of mitochondrial metabolism Resting tremor Atrophy/Degeneration affecting the brainstem Mitral regurgitation Postural instability Abnormality of the cerebrospinal fluid Degeneration of anterior horn cells Generalized muscle weakness Skeletal dysplasia Dyspnea Areflexia Sleep apnea Slurred speech Emotional lability Fatigue Agitation Bulbar palsy Xerostomia Abnormal lower motor neuron morphology Degeneration of the lateral corticospinal tracts Falls Pseudobulbar paralysis Functional respiratory abnormality Microcephaly Laryngospasm Fatigable weakness of respiratory muscles Fatigable weakness of bulbar muscles Fatigable weakness of swallowing muscles Hirano bodies Extrapyramidal muscular rigidity Loss of facial expression Normal pressure hydrocephalus Dysesthesia Congenital cataract Primitive reflex Cerebral visual impairment Generalized-onset seizure Abnormal sperm morphology Broad-based gait Lower limb spasticity Impaired vibratory sensation Brisk reflexes Ankle clonus Progressive spastic paraplegia Upper limb spasticity Limb dysmetria Reduced sperm motility Knee clonus Impaired vibration sensation at ankles Jerky ocular pursuit movements Upper limb dysmetria Dysmetria Abnormal tendon morphology Sperm head anomaly Recurrent infections Headache Visual loss Pneumonia Rod-cone dystrophy Glaucoma Tetraplegia Retinal degeneration Nevus Progressive visual loss Pigmentary retinopathy Decreased testicular size Gait ataxia Cataplexy Dysphonia Pseudobulbar signs Predominantly lower limb lymphedema Dilated third ventricle Hallucinations Choreoathetosis Hyporeflexia Hemiparesis Ophthalmoplegia Hepatic failure Increased serum lactate External ophthalmoplegia Ragged-red muscle fibers Decreased nerve conduction velocity Paraplegia Rhabdomyolysis Mitochondrial myopathy Progressive external ophthalmoplegia Irritability Scoliosis Flexion contracture Rigidity Reduced visual acuity Hypoplasia of the corpus callosum Kyphosis Difficulty walking Spastic paraplegia Infertility Ring fibers



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