Dysarthria, and Retinal detachment

Diseases related with Dysarthria and Retinal detachment

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

Top matches:

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

COL4A1-related familial vascular leukoencephalopathy is a rare, genetic, neurological disease characterized by the presence of fragile small-vessel intracerebral vasculature in various members of a single family, manifesting, clinically, with single or recurrent hemorrhagic and/or ischemic stroke and, frequently, ocular and renal involvement. Neuroimaging reveals diffuse, periventricular leukoencephalopathy associated with dilated perivascular spaces, lacunar infarction and microhemorrhages.

COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY Is also known as col4a1-related brain small vessel disease with hemorrhage|leukoencephalopathy with axenfeld-rieger anomaly|brain small vessel disease with axenfeld-rieger anomaly|brain small vessel disease with hemorrhage|infantile hemiparesis|retinal arteriolar tortuosi

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about COL4A1-RELATED FAMILIAL VASCULAR LEUKOENCEPHALOPATHY

Sturge-Weber syndrome (SWS) is a rare congenital neurocutaneous disorder characterized by facial capillary malformations and/or cerebral and ocular ipsilateral vascular malformations that result in variable degrees of ocular and neurological anomalies.

STURGE-WEBER SYNDROME Is also known as sws|sturge-weber-dimitri syndrome|sturge-weber-krabbe angiomatosis|encephalofacial angiomatosis|sturge-weber-krabbe syndrome|encephalotrigeminal angiomatosis

Related symptoms:

  • Intellectual disability
  • Seizures
  • Strabismus
  • Hyperreflexia
  • Macrocephaly


SOURCES: ORPHANET MENDELIAN

More info about STURGE-WEBER SYNDROME

Other less relevant matches:

Von Hippel-Lindau disease (VHL) is a familial cancer predisposition syndrome associated with a variety of malignant and benign neoplasms, most frequently retinal, cerebellar, and spinal hemangioblastoma, renal cell carcinoma (RCC), and pheochromocytoma.

VON HIPPEL-LINDAU DISEASE Is also known as familial cerebelloretinal angiomatosis|von hippel-lindau syndrome|lindau disease|vhl

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET MENDELIAN

More info about VON HIPPEL-LINDAU DISEASE

Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by variable intellectual deficit, sleep disturbance, craniofacial and skeletal anomalies, psychiatric disorders, and speech and motor delay.

SMITH-MAGENIS SYNDROME Is also known as 17p11.2 microdeletion syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Microcephaly


SOURCES: ORPHANET MENDELIAN

More info about SMITH-MAGENIS SYNDROME

Takenouchi-Kosaki syndrome is a highly heterogeneous autosomal dominant complex congenital developmental disorder affecting multiple organ systems. The core phenotype includes delayed psychomotor development with variable intellectual disability, dysmorphic facial features, and cardiac, genitourinary, and hematologic or lymphatic defects, including thrombocytopenia and lymphedema. Additional features may include abnormalities on brain imaging, skeletal anomalies, and recurrent infections. Some patients have a milder disease course reminiscent of Noonan syndrome (see, e.g., NS1, {163950}) (summary by Martinelli et al., 2018).

MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME Is also known as takenouchi-kosaki syndrome|macrothrombocytopenia and mental retardation syndrome

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about MACROTHROMBOCYTOPENIA-LYMPHEDEMA-DEVELOPMENTAL DELAY-FACIAL DYSMORPHISM-CAMPTODACTYLY SYNDROME

Vogt-Koyanagi-Harada disease is a bilateral, chronic, diffuse granulomatous panuveitis typically characterized by serous retinal detachment and frequently associated with neurological (meningitis), auditory, and dermatological alterations.

VOGT-KOYANAGI-HARADA DISEASE Is also known as uveomenigitic syndrome

Related symptoms:

  • Short stature
  • Sensorineural hearing impairment
  • Cataract
  • Cognitive impairment
  • Visual impairment


SOURCES: ORPHANET MESH MENDELIAN

More info about VOGT-KOYANAGI-HARADA DISEASE

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11 Is also known as walker-warburg syndrome or muscle-eye-brain disease, b3galnt2-related

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Cataract
  • Spasticity


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11; MDDGA11

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. The lipopigment pattern seen most often in CLN2 consists of 'curvilinear' profiles (Mole et al., 2005).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2 Is also known as jansky-bielschowsky disease|ceroid lipofuscinosis, neuronal, 2, variable age at onset

Related symptoms:

  • Seizures
  • Ataxia
  • Delayed speech and language development
  • Visual impairment
  • Optic atrophy


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 2; CLN2

Cohen syndrome is an autosomal recessive multisystem disorder characterized by many clinical features, including facial dysmorphism, microcephaly, truncal obesity, intellectual disability, progressive retinopathy, and intermittent congenital neutropenia (summary by Duplomb et al., 2014).

COHEN SYNDROME; COH1 Is also known as chs1, formerly|pepper syndrome|coh|hypotonia, obesity, and prominent incisors

Related symptoms:

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


SOURCES: OMIM MESH MENDELIAN

More info about COHEN SYNDROME; COH1

Top 5 symptoms//phenotypes associated to Dysarthria and Retinal detachment

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Cataract Common - Between 50% and 80% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Dysarthria and Retinal detachment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Strabismus Global developmental delay Blindness Neurological speech impairment Sensorineural hearing impairment Glaucoma Myopia Hearing impairment Microcephaly Optic atrophy Ataxia Synophrys Hydrocephalus Behavioral abnormality Ptosis Microcornea Visual loss Short stature Scoliosis Hypertelorism Stroke Retinopathy Microphthalmia Cerebellar atrophy Short philtrum Cerebellar hypoplasia Generalized hypotonia

Rare Symptoms - Less than 30% cases

Delayed puberty Exotropia Muscular hypotonia Micrognathia Cognitive impairment Abnormal facial shape Cryptorchidism Downslanted palpebral fissures Gait disturbance Progressive microcephaly Visceral angiomatosis Abnormality of the cerebral vasculature Depressed nasal bridge Capillary hemangioma Venous thrombosis Gingival overgrowth Iris coloboma Abnormality of the skeletal system Attention deficit hyperactivity disorder Cerebral cortical atrophy Recurrent infections Thrombocytopenia Hernia Delayed speech and language development Wide nasal bridge Decreased fetal movement Highly arched eyebrow Open mouth Feeding difficulties in infancy Rod-cone dystrophy Pes planus Gastroesophageal reflux Mandibular prognathia Wide mouth Smooth philtrum Macrocephaly Tented upper lip vermilion Tapered finger Thin upper lip vermilion Hypothyroidism Precocious puberty Retinal degeneration Reduced visual acuity Clinodactyly of the 5th finger Progressive visual loss Obesity Nevus Midface retrusion Ventriculomegaly Failure to thrive in infancy Upslanted palpebral fissure Abnormality of the retinal vasculature Narrow forehead Dilatation Migraine Leukoencephalopathy Intellectual disability, moderate Cerebral hemorrhage Cardiomyopathy Intellectual disability, mild Astigmatism Intracranial hemorrhage Elevated serum creatine phosphokinase Dementia Hyperreflexia Congenital neutropenia Congenital muscular dystrophy Cerebellar dysplasia Iris atrophy Hypoplasia of the pons Muscle weakness Macrodontia Lissencephaly Optic nerve hypoplasia Muscular hypotonia of the trunk Spasticity Severe muscular hypotonia Polymicrogyria Muscular dystrophy Granulocytopenia Bull's eye maculopathy Recurrent aphthous stomatitis Type II lissencephaly Bone spicule pigmentation of the retina Facial hypotonia Neuronal loss in central nervous system Misalignment of teeth Neurodegeneration Deep venous thrombosis Furrowed tongue Macular edema Developmental regression Thick hair Mental deterioration Myoclonus Abnormality of the larynx Aplasia/Hypoplasia of the earlobes Encephalopathy Cerebral atrophy Tapetoretinal degeneration Cerebellar cyst Poliosis Abnormal eyelash morphology Abnormal eyebrow morphology Overlapping toe Retinal dysplasia Prominent eyelashes Congenital nystagmus Abnormality of the periventricular white matter Macrodontia of permanent maxillary central incisor Abnormality of the sternum Pericardial effusion Childhood-onset truncal obesity Unilateral renal agenesis Protein-losing enteropathy Proximal placement of thumb Sparse eyebrow Hypoplastic philtrum Cat cry Hypoalbuminemia Widely spaced teeth Abnormal intestine morphology Lymphedema Mild microcephaly Anomalous pulmonary venous return Vitiligo Hemeralopia Hyperplasia of the maxilla Abnormal electroretinogram Premature graying of hair Hypopigmented skin patches Sparse scalp hair Laryngeal stenosis Chorioretinal dystrophy Cutis gyrata of scalp Eversion of lateral third of lower eyelids Thick corpus callosum Flared nostrils Narrow palm Narrow philtrum Intestinal lymphangiectasia Macrothrombocytopenia Increased mean platelet volume Chorioretinal dysplasia Total anomalous pulmonary venous return High-pitched cry Tetraparesis Recurrent skin infections Vocal cord paralysis Rheumatoid arthritis Thick vermilion border Laryngomalacia Reduced number of teeth Retinal dystrophy Short metatarsal Radioulnar synostosis Thick eyebrow Joint hypermobility Abnormality of skin pigmentation Small hand Cubitus valgus Arachnodactyly Constriction of peripheral visual field Abnormality of dental morphology Joint hyperflexibility Genu valgum Severe global developmental delay Finger syndactyly Small for gestational age High, narrow palate Single transverse palmar crease Disproportionate tall stature Lumbar hyperlordosis Sandal gap Intellectual disability, progressive Low anterior hairline Preauricular skin tag Abnormality of retinal pigmentation Long eyelashes Tall stature Clumsiness High myopia Neutropenia Mitral valve prolapse Pigmentary retinopathy Convex nasal ridge Otitis media Aciduria Growth hormone deficiency Prominent nose Short metacarpal Hypoplasia of the maxilla Prominent nasal bridge Nyctalopia Atonic seizures Retinal thinning High palate Failure to thrive Growth delay Increased extraneuronal autofluorescent lipopigment Abnormal nervous system electrophysiology Mitochondrial encephalopathy Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Increased neuronal autofluorescent lipopigment Subcapsular cataract Intrauterine growth retardation Thoracic scoliosis Peripheral visual field loss Hiatus hernia Intracellular accumulation of autofluorescent lipopigment storage material Posterior subcapsular cataract Gingivitis Motor deterioration Undetectable electroretinogram Leukopenia Motor delay Ventricular septal defect Truncal obesity Weak cry Paralysis Abnormality of the hip bone Protruding ear Respiratory tract infection Postnatal growth retardation Narrow nasal bridge Joint laxity Celiac disease Arthritis Respiratory distress Neonatal hypotonia Retrognathia Kyphoscoliosis Macrotia Diabetes mellitus Pectus excavatum Malar flattening Kyphosis Edema Microglossia Abnormal localization of kidney Bilateral sensorineural hearing impairment Hypoplasia of the iris Porencephalic cyst Hypopigmentation of the fundus Anterior synechiae of the anterior chamber Anterior segment developmental abnormality Corneal neovascularization Supraventricular tachycardia Ectopia pupillae Increased intraocular pressure Posterior embryotoxon Retinal hemorrhage Infantile spasms Scotoma Congenital glaucoma Blurred vision Hemiplegia Dysphonia Spastic paraparesis Paraparesis Migraine with aura Neuritis Hemiparesis Thalamic hemorrhage Abnormality of vision Arnold-Chiari malformation Corneal dystrophy Cerebral calcification Abnormality of eye movement Autistic behavior Abnormality of the eye Dysphagia Posterior leukoencephalopathy Arterial tortuosity Retinal arterial tortuosity Right hemiplegia Peripapillary atrophy Retinal arteriolar tortuosity Optic neuritis Diffuse leukoencephalopathy Perivascular spaces Polycoria Rieger anomaly Amblyopia Spastic tetraplegia Pulmonary embolism Diplopia Ankle clonus Brisk reflexes Slurred speech Macular degeneration EMG abnormality Horizontal nystagmus Truncal ataxia Fasciculations Limb ataxia Slow saccadic eye movements Broad-based gait Intention tremor Generalized-onset seizure Progressive cerebellar ataxia Dysmetria Gait ataxia Pes cavus Fatigue Tremor Progressive gait ataxia Saccadic smooth pursuit Tetraplegia Abnormality of the cerebral white matter Muscle cramps Renal cyst Hypopigmentation of the skin Nephropathy Hematuria Tachycardia Congenital cataract Hypermetropia Corneal opacity Dysmetric saccades Facial palsy Abnormality of the nervous system Depressivity Headache Tortuosity of conjunctival vessels Abnormal enzyme/coenzyme activity Downbeat nystagmus Hypermetric saccades Leg muscle stiffness Hyperostosis Hearing abnormality Dandy-Walker malformation Chronic otitis media Abnormal tracheobronchial morphology Hyperacusis Delayed eruption of primary teeth Large face Taurodontia Abnormality of the ureter Impaired pain sensation Self-injurious behavior Hand polydactyly Low-set ears Renal hypoplasia/aplasia Aplasia/Hypoplasia of the corpus callosum Hypercholesterolemia Hoarse voice Stereotypy Abnormal form of the vertebral bodies Hypertriglyceridemia Sleep disturbance Corticospinal tract hypoplasia Flexion contracture Toe syndactyly Camptodactyly Renal agenesis Webbed neck Dental malocclusion Ascites Downturned corners of mouth Bulbous nose Pulmonic stenosis Abnormal cardiac septum morphology Hydronephrosis Hypoplasia of the corpus callosum Prominent forehead Posteriorly rotated ears Inguinal hernia Patent ductus arteriosus Clinodactyly Hypospadias Absent speech Immunodeficiency Long philtrum Cleft upper lip Broad forehead Heterochromia iridis Multicystic kidney dysplasia Arteriovenous malformation Multiple renal cysts Renal cell carcinoma Telangiectasia of the skin Hemiplegia/hemiparesis Aplasia/Hypoplasia of the cerebellum Polycystic kidney dysplasia Increased intracranial pressure Sensory neuropathy Pheochromocytoma Nausea and vomiting Abnormality of the kidney Hyperhidrosis Arrhythmia Hypertension Neoplasm Abnormal choroid morphology Conjunctival telangiectasia Hemianopia Abnormality of the pancreas Pancreatic cysts Joint stiffness Short nose Anxiety Conductive hearing impairment Deeply set eye EEG abnormality Brachycephaly Constipation Hyporeflexia Abnormality of cardiovascular system morphology Anteverted nares Abnormality of the lymphatic system Frontal bossing Brachydactyly Peripheral neuropathy Cleft palate Neoplasm of the middle ear Vascular neoplasm Retinal capillary hemangioma Papillary cystadenoma of the epididymis Neuroendocrine neoplasm Slender toe


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