Dysarthria, and Corneal dystrophy

Diseases related with Dysarthria and Corneal dystrophy

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


Top matches:

Medium match PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR


X-linked reticulate pigmentary disorder shows more severe manifestations in hemizygous males compared to heterozygous females. Affected males have early onset of recurrent respiratory infections and failure to thrive resulting from inflammatory gastroenteritis or colitis. Patients also show reticular pigmentation abnormalities of the skin and may develop corneal scarring. Carrier females may be unaffected or have only pigmentary abnormalities along the lines of Blaschko (summary by Starokadomskyy et al., 2016).

PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR Is also known as xlpdr

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Failure to thrive
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS, X-LINKED; PDR

Low match AGEL AMYLOIDOSIS


AGel amyloidosis is a rare, systemic amyloidosis characterized by a triad of ophthalmologic, neurologic and dermatologic findings due to the deposition of gelsolin amyloid fibrils in these tissues. Clinical manifestations include corneal lattice dystrophy, cranial neuropathy, especially affecting the facial nerve, bulbar signs, cutis laxa, increased skin fragility, and less commonly peripheral neuropathy and renal failure.

AGEL AMYLOIDOSIS Is also known as amyloid cranial neuropathy with lattice corneal dystrophy|amyloidosis, meretoja type|amyloidosis due to mutant gelsolin|amyloidosis v|familial amyloidosis, finnish type|gelsolin amyloidosis|familial amyloid polyneuropathy type iv|hereditary amyloidosis, f

Related symptoms:

  • Cataract
  • Ptosis
  • Peripheral neuropathy
  • Cardiomyopathy
  • Renal insufficiency


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AGEL AMYLOIDOSIS

Low match STURGE-WEBER SYNDROME


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

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Other less relevant matches:

Low match DYSTONIA 28, CHILDHOOD-ONSET; DYT28


Dystonia-28 is an autosomal dominant neurologic disorder characterized by onset of progressive dystonia in the first decade of life. Dystonia typically begins focally in the lower limbs, resulting in gait difficulties, with later progression to other body regions, including the upper limbs, neck, and orofacial region. The severity is variable, and some patients may become wheelchair-bound. Many patients also have an elongated face with bulbous nose, and some have abnormal eye movements. About half of patients show delayed motor and/or cognitive development with mild intellectual disability (summary by Zech et al., 2016 and Meyer et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about DYSTONIA 28, CHILDHOOD-ONSET; DYT28

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75


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

Low match GM1 GANGLIOSIDOSIS TYPE 3


GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.

GM1 GANGLIOSIDOSIS TYPE 3 Is also known as gangliosidosis, generalized gm1, type iii|gangliosidosis, generalized gm1, type 3|adult-onset gm1 gangliosidosis|gangliosidosis, generalized gm1, adult type|gangliosidosis, generalized gm1, chronic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 3

Low match SJÖGREN-LARSSON SYNDROME


Sjögren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.

SJÖGREN-LARSSON SYNDROME Is also known as fatty acid alcohol oxidoreductase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about SJÖGREN-LARSSON SYNDROME

Low match FAMILIAL PORENCEPHALY


Porencephaly is a term used for any cavitation or cerebrospinal fluid-filled cyst in the brain. One form, called encephaloclastic, or type 1, porencephaly, is usually unilateral and results from focal destructive lesions such as fetal vascular occlusion or birth trauma. Another form, called schizencephalic, or type 2, porencephaly, is usually symmetric and represents a primary defect or arrest in the development of the cerebral ventricles. Encephaloclastic porencephaly is more common (Airaksinen, 1984; Sensi et al., 1990). Genetic Heterogeneity of PorencephalySee also POREN2 (OMIM ), caused by mutation in the COL4A2 gene (OMIM ).

FAMILIAL PORENCEPHALY Is also known as t1p|porencephaly, type 1, autosomal dominant|adt1p|hemiplegia, infantile, with porencephaly porencephaly, type 1

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Strabismus
  • Cataract


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL PORENCEPHALY

Low match HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS


Hypotonia, ataxia, and delayed development syndrome (HADDS) is a neurodevelopmental syndrome characterized by congenital hypotonia, delayed psychomotor development, variable intellectual disability with speech delay, variable dysmorphic facial features, and ataxia, often associated with cerebellar hypoplasia. Some patients may have urogenital abnormalities (summary by Sleven et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPOTONIA, ATAXIA, AND DELAYED DEVELOPMENT SYNDROME; HADDS

Low match BILATERAL STRIOPALLIDODENTATE CALCINOSIS


Bilateral striopallidodentate calcinosis (BSPDC, also erroneously called Fahr disease) is characterized by the accumulation of calcium deposits in different brain regions, particularly the basal ganglia and dentate nucleus, and is often associated with neurodegeneration.

BILATERAL STRIOPALLIDODENTATE CALCINOSIS Is also known as cerebrovascular ferrocalcinosis|primary familial brain calcification|ferrocalcinosis, cerebrovascular|pfbc|bspdc|striopallidodentate calcinosis, bilateral|cerebral calcification, nonarteriosclerotic, idiopathic, adult-onset|basal ganglia calcification, id

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about BILATERAL STRIOPALLIDODENTATE CALCINOSIS

Top 5 symptoms//phenotypes associated to Dysarthria and Corneal dystrophy

Symptoms // Phenotype % cases
Intellectual disability Very Common - Between 80% and 100% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Dystonia Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Dysarthria and Corneal dystrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Short stature Microcephaly Neurological speech impairment Abnormal pyramidal sign Dysmetria Glaucoma Delayed speech and language development Tremor Astigmatism Dysphagia Ventriculomegaly Cerebellar atrophy Hypertonia Strabismus Gait disturbance Ataxia

Rare Symptoms - Less than 30% cases


Slurred speech Athetosis Hemianopia Cerebral calcification Abnormality of eye movement Cerebellar hypoplasia Stroke Abnormality of extrapyramidal motor function Abnormality of the eye Hydrocephalus Pain Optic atrophy Hyperreflexia Tetraparesis Neurodegeneration Abnormal cerebellum morphology Motor delay Chorea Myoclonus Parkinsonism Clumsiness Limb dystonia Generalized dystonia Generalized hypotonia Rigidity Kyphosis Facial paralysis Babinski sign Neonatal hypotonia Scoliosis Urinary incontinence Mental deterioration Hemiplegia Corneal opacity Amyloidosis Focal dystonia Cataract Photophobia Peripheral neuropathy Blindness Paralysis Hyperkeratosis Opacification of the corneal stroma Downslanted palpebral fissures Pontocerebellar atrophy Schizencephaly Perivascular spaces Spastic hemiparesis Antenatal intracerebral hemorrhage Hypertelorism Abnormal facial shape Failure to thrive Cryptorchidism Urticaria Low-set ears Epicanthus Macular degeneration Anteverted nares Porencephalic cyst Posteriorly rotated ears Prominent forehead Micropenis Gastroesophageal reflux High forehead Thin upper lip vermilion Deeply set eye Muscular hypotonia of the trunk Prominent nasal bridge Synophrys Long face Downturned corners of mouth Triangular face Primitive reflex Elevated serum creatine phosphokinase Visual impairment Drooling Polymicrogyria Hemolytic anemia Hematuria Renal cyst Muscle cramps Mitral valve prolapse Dilatation Anemia Hemiparesis Exotropia Leukoencephalopathy Cerebral palsy Inflammatory abnormality of the eye Ischemic stroke Stroke-like episode Corneal erosion Intracranial hemorrhage Cerebral hemorrhage Dysphasia Cortical dysplasia Opisthotonus Visual field defect Restlessness Posterior embryotoxon Hypoplasia of the iris Broad nasal tip Transient ischemic attack Generalized hyperpigmentation Nuclear cataract Spastic diplegia Nephrotic syndrome Vesicoureteral reflux Progressive encephalopathy Bradykinesia Psychosis Progressive neurologic deterioration Choreoathetosis Broad-based gait Muscle stiffness Schizophrenia Dysdiadochokinesis Oral-pharyngeal dysphagia Emotional lability Mask-like facies Abnormality of neuronal migration Basal ganglia calcification Bipolar affective disorder Frontotemporal dementia Memory impairment Lewy bodies Abnormal lower motor neuron morphology Calcinosis Orofacial dyskinesia Pseudohypoparathyroidism Alcoholism Mood swings Subcutaneous hemorrhage Limb dysmetria Focal motor seizures Micrographia Progressive choreoathetosis Pill-rolling tremor Calcification of the small brain vessels Neuronal loss in central nervous system Gliosis Delayed myelination Horizontal eyebrow Decreased fetal movement Abnormality of retinal pigmentation Apraxia Stereotypy Short chin Abnormality of the genitourinary system Poor head control Deep philtrum Overfolded helix Myopathic facies Delayed ability to walk Inverted nipples Pain insensitivity Oval face Overfolding of the superior helices Postural instability Encephalopathy Dyskinesia Vertigo Abnormality of movement Abnormality of the liver Gait ataxia Dementia Depressivity Broad chin Thrombocytopenia Headache Fatigue Intrauterine growth retardation Hepatomegaly Hypertension Abnormality of dental enamel Myopia Ichthyosis Enterocolitis Heterochromia iridis Abnormality of the cerebral vasculature Abnormality of the retinal vasculature Visceral angiomatosis Conjunctival telangiectasia Abnormal choroid morphology Generalized reticulate brown pigmentation Cutaneous amyloidosis Growth delay Recurrent infection of the gastrointestinal tract Urethral stricture Broad eyebrow Corneal scarring Ulcerative colitis Hearing abnormality Bulbous nose Torticollis Dysphonia Toe walking Colitis Inflammation of the large intestine Mild microcephaly Laryngeal dystonia Oromandibular dystonia Abnormal posturing Craniofacial dystonia Retrocollis Keratitis Nystagmus Capillary hemangioma Pulmonary embolism Areflexia Macrocephaly Abnormal autonomic nervous system physiology Cutis laxa Bulbar palsy Orthostatic hypotension Abnormality of abdomen morphology Bulbar signs Hypotension Mild proteinuria Lattice corneal dystrophy Cardiac amyloidosis Bilateral facial palsy Generalized amyloid deposition Polyneuropathy Everted lower lip vermilion Poor speech Hyperostosis Behavioral abnormality Cerebral cortical atrophy Proteinuria Autistic behavior Attention deficit hyperactivity disorder Renal insufficiency Cardiomyopathy Iris coloboma Retinal detachment Ptosis Gingival overgrowth Venous thrombosis Arnold-Chiari malformation Abnormality of vision Failure to thrive in infancy Hyporeflexia Dry skin Diffuse cerebral atrophy Inguinal hernia Visual loss Hernia Intention tremor Abnormality of metabolism/homeostasis Abnormality of the face Spastic tetraparesis Diarrhea Generalized amyotrophy Progressive spasticity Abnormality of blood and blood-forming tissues Hyperactive deep tendon reflexes Loss of speech Flared iliac wings Platyspondyly Foam cells Visceromegaly Facial grimacing Angiokeratoma Stuttering Hypoplastic acetabulae Anterior beaking of lumbar vertebrae Decreased beta-galactosidase activity Muscular hypotonia Palpitations Skeletal dysplasia Erythema Joint stiffness Retinopathy Pneumonia Recurrent respiratory infections Recurrent pneumonia Leukodystrophy Reduced visual acuity Difficulty walking Hyperpigmentation of the skin Intellectual disability, moderate Hypohidrosis Spastic paraplegia Abnormality of the cerebral white matter Hypermetropia Paraplegia Bronchiectasis Chronic diarrhea Abnormality of skin pigmentation Spastic gait Clonus Paraparesis Pes cavus Spastic paraparesis Impaired vibratory sensation Distal lower limb amyotrophy Corpus callosum atrophy Spastic dysarthria Areflexia of lower limbs Titubation Hyporeflexia of lower limbs Impaired distal vibration sensation Temporal optic disc pallor Scarring Respiratory tract infection Skeletal muscle atrophy Intellectual disability, mild Dense calcifications in the cerebellar dentate nucleus



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