Dysarthria, and Proptosis

Diseases related with Dysarthria and Proptosis

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

Top matches:

Machado-Joseph disease type 1 is a rare, usually severe subtype of Machado-Joseph disease (SCA3/MJD, see this term) characterized by the presence of marked pyramidal and extrapyramidal signs.

MACHADO-JOSEPH DISEASE TYPE 1 Is also known as spinocerebellar ataxia type 3, joseph type|sca3, joseph type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 1

Machado-Joseph disease type 2 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) with intermediate severity characterized by an intermediate age of onset, cerebellar ataxia and external progressive ophthalmoplegia, with variable pyramidal and extrapyramidal signs.

MACHADO-JOSEPH DISEASE TYPE 2 Is also known as sca3, thomas type|spinocerebellar ataxia, thomas type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 2

Machado-Joseph disease type 3 is a subtype of Machado-Joseph disease (SCA3/MJD, see this term) of milder severity characterized by late onset, slower progression, and peripheral amyotrophy.

MACHADO-JOSEPH DISEASE TYPE 3 Is also known as sca3, machado type|spinocerebellar ataxia type 3, machado type

Related symptoms:

  • Spasticity
  • Delayed speech and language development
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET MENDELIAN

More info about MACHADO-JOSEPH DISEASE TYPE 3

Other less relevant matches:

Machado-Joseph disease, named for affected families of Azorean extraction, is an autosomal dominant progressive neurologic disorder characterized principally by ataxia, spasticity, and ocular movement abnormalities. Although independently described as a seemingly separate disorder, spinocerebellar ataxia-3 is now known to be the same as Machado-Joseph disease.Three classic clinical subtypes of MJD are recognized: type 1 with early onset and marked pyramidal and dystonic signs; type 2, or pure, with predominant cerebellar ataxia; and type 3 with later-onset and peripheral neuropathy (Franca et al., 2008).

MACHADO-JOSEPH DISEASE; MJD Is also known as spinocerebellar ataxia 3|spinocerebellar atrophy iii|spinopontine atrophy|azorean neurologic disease|nigrospinodentatal degeneration|sca3

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Spasticity
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about MACHADO-JOSEPH DISEASE; MJD

Allan-Herndon-Dudley syndrome (AHDS) is an X-linked intellectual disability syndrome with neuromuscular involvement characterized by infantile hypotonia, muscular hypoplasia, spastic paraparesis with dystonic/athetoic movements, and severe cognitive deficiency.

ALLAN-HERNDON-DUDLEY SYNDROME Is also known as x-linked intellectual disability-hypotonia syndrome|t3 resistance|allan-herndon syndrome|triiodothyronine resistance|monocarboxylate transporter 8 deficiency|mct8 deficiency|mental retardation and muscular atrophy|mental retardation, x-linked, with hypoto

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly
  • Scoliosis


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about ALLAN-HERNDON-DUDLEY SYNDROME

BASAL CELL NEVUS SYNDROME; BCNS Is also known as nevoid basal cell carcinoma syndrome|gorlin-goltz syndrome|gorlin syndrome|nbccs|multiple basal cell nevi, odontogenic keratocysts, and skeletal anomalies

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Microcephaly
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about BASAL CELL NEVUS SYNDROME; BCNS

Medium match NOONAN SYNDROME

Noonan Syndrome (NS) is characterised by short stature, typical facial dysmorphism and congenital heart defects.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET MENDELIAN

More info about NOONAN SYNDROME

Cardiofaciocutaneous (CFC) syndrome is a RASopathy characterized by craniofacial dysmorphology, congenital heart disease, dermatological abnormalities (most commonly hyperkeratotic skin and sparse, curly hair), growth retardation and intellectual disability.

CARDIOFACIOCUTANEOUS SYNDROME Is also known as cfcs|cfc syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CARDIOFACIOCUTANEOUS SYNDROME

Medium match COSTELLO SYNDROME

Costello syndrome (CS) is a rare multisystemic disorder characterized by failure to thrive, short stature, developmental delay or intellectual disability, joint laxity, soft skin, and distinctive facial features. Cardiac and neurological involvement is common and there is an increased lifetime risk of certain tumors.

COSTELLO SYNDROME Is also known as fcs syndrome|faciocutaneoskeletal syndrome

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about COSTELLO SYNDROME

JBTS32 is an autosomal recessive developmental disorder characterized by delayed psychomotor development, intellectual disability, dysmorphic facial features, and postaxial polydactyly. Brain imaging shows cerebellar abnormalities consistent with the molar tooth sign (MTS) (summary by De Mori et al., 2017).For discussion of genetic heterogeneity of Joubert syndrome, see JBTS1 (OMIM ).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JOUBERT SYNDROME 32; JBTS32

Top 5 symptoms//phenotypes associated to Dysarthria and Proptosis

Symptoms // Phenotype % cases
Dysphagia Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Sleep disturbance Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Ptosis Delayed speech and language development Scoliosis Pectus excavatum Ataxia Hypertelorism Skeletal muscle atrophy Babinski sign Dystonia Epicanthus Abnormal facial shape Micrognathia Cryptorchidism Global developmental delay Muscular hypotonia Macrocephaly Feeding difficulties Feeding difficulties in infancy Sparse hair Coarse facial features Facial-lingual fasciculations Downslanted palpebral fissures Frontal bossing Strabismus Diplopia Dilated fourth ventricle Spinocerebellar tract degeneration Progressive external ophthalmoplegia Gaze-evoked nystagmus Progressive cerebellar ataxia Muscle cramps Abnormal pyramidal sign Abnormality of extrapyramidal motor function Cerebellar atrophy Supranuclear ophthalmoplegia Hyperreflexia High palate Atrial septal defect Short neck Webbed neck Ventricular septal defect Myopia Hepatomegaly Low-set, posteriorly rotated ears High, narrow palate Decreased body weight Lymphedema Cafe-au-lait spot Failure to thrive Growth delay Neurogenic bladder Short stature Large for gestational age Abnormality of cardiovascular system morphology Thick vermilion border Gastroesophageal reflux Delayed skeletal maturation Vestibular dysfunction Hypertrophic cardiomyopathy Pectus carinatum Pulmonic stenosis Motor delay Polyhydramnios Distal lower limb amyotrophy Progressive gait ataxia Degeneration of the striatum Vocal cord paralysis Pleural effusion Joint hypermobility Generalized hypotonia Failure to thrive in infancy Substantia nigra gliosis Clumsiness Relative macrocephaly Depressed nasal bridge Irritability Abnormality of the dentition Hydrocephalus Nevus Memory impairment Hyperpigmentation of the skin Kyphoscoliosis Abnormal mitral valve morphology Melanocytic nevus Upper motor neuron dysfunction Abnormality of temperature regulation Abnormality of the testis Hearing impairment Neoplasm Curly hair Peripheral neuropathy Seizures

Rare Symptoms - Less than 30% cases

Brachydactyly Arrhythmia Abnormality of the skeletal system Clinodactyly of the 5th finger Thrombocytopenia Constipation Polydactyly Arnold-Chiari type I malformation EEG abnormality Abnormality of the sternum Thick upper lip vermilion Deep palmar crease Hyperextensibility of the finger joints Fragile nails Generalized hyperpigmentation Thoracic scoliosis Hypogonadotrophic hypogonadism Carcinoma Hemiparesis Talipes equinovarus Intellectual disability, mild Hyperkeratosis Postaxial polydactyly Hypotrichosis Telecanthus Woolly hair Joint hyperflexibility Hypogonadism Low-set ears Abnormality of the pulmonary artery Multiple lentigines Abnormal pulmonary valve morphology Growth hormone deficiency Premature birth Full cheeks Hyperkeratosis pilaris Puberty and gonadal disorders Abnormal location of ears Astigmatism Hypermetropia Ventriculomegaly Oculomotor apraxia Anteverted nares Cardiomyopathy Edema Short nose Long philtrum Cerebral atrophy Hernia Abnormal heart morphology Inguinal hernia Osteopenia Posteriorly rotated ears Hyperhidrosis Narrow palate Thickened helices High forehead Cataract Hydronephrosis Postnatal growth retardation Neurological speech impairment Delayed puberty Bruising susceptibility Neurodevelopmental delay Abnormal bleeding Dental malocclusion Mitral valve prolapse Coarctation of aorta Low posterior hairline Heart murmur Cutis laxa Abnormal dermatoglyphics Arnold-Chiari malformation Bilateral ptosis Cubitus valgus Redundant skin Hyperextensible skin Poor suck Thickened nuchal skin fold Premature skin wrinkling Hemangioma Abnormality of refraction Redundant neck skin Thick lower lip vermilion Palmoplantar keratoderma Cerebral cortical atrophy Open mouth Myopathic facies Abnormality of the eye Leukemia Muscle stiffness Microcephaly Postural instability Abnormal cerebellum morphology Narrow forehead Biparietal narrowing Cerebral calcification Tetraplegia Long face Abnormality of the nervous system Macrotia Absent speech Malar flattening Intellectual disability, severe Depressivity Muscle weakness Central hypotonia Peripheral axonal neuropathy Optic atrophy Apraxia Delayed CNS myelination Abnormality of the neck Hypoplasia of the zygomatic bone Flexion contracture Pain Bladder neoplasm Scaling skin Melena Capillary malformation Triangular mouth Sparse eyebrow Ectropion Duodenal ulcer Body odor Brittle hair Ulnar deviation of the wrist Deep philtrum Hematemesis Postprandial hyperglycemia Shyness Umbilical hernia Abnormality of vision Palmoplantar hyperkeratosis Optic nerve hypoplasia Delayed gross motor development Hypopnea Chronic otitis media Polymicrogyria Deep plantar creases Malnutrition Broad philtrum Molar tooth sign on MRI Fasting hypoglycemia Autism Hypoplasia of teeth Concave nail Pneumothorax Rhabdomyosarcoma Aplasia/Hypoplasia of the eyebrow Hydroureter Tall stature Broad femoral neck Concentric hypertrophic cardiomyopathy Schwannoma Abnormality of earlobe Limited elbow movement Open bite Fetal distress Bronchomalacia Absent eyebrow Papilloma Large face Obsessive-compulsive behavior Cerebellar vermis hypoplasia Thin nail Abnormality of the genitourinary system Ganglioneuroblastoma Sleep apnea Genu valgum Hepatic steatosis Retinal dystrophy Bulbous nose Myofiber disarray Aggressive behavior Falls Abnormality of skin pigmentation Ichthyosis Dry skin Abnormality of the kidney Respiratory tract infection Vitreomacular adhesion Enlarged cerebellum Abnormality of the cerebral white matter Dolichocephaly Nail dystrophy Tendon rupture Alveolar rhabdomyosarcoma Lymphangiectasis Congenital neuroblastoma Thickened Achilles tendon Systolic heart murmur Pruritus Abnormal cardiac septum morphology Erythema Abdominal distention Macrocephaly at birth Transitional cell carcinoma of the bladder Aspiration Scarring Frontal hirsutism Aplasia/Hypoplasia of the corpus callosum Vestibular Schwannoma Abnormal palate morphology Deep-set nails Embryonal rhabdomyosarcoma Multifocal atrial tachycardia Sparse eyelashes Increased corneal curvature Abnormality of the nail Cerebral visual impairment Vesicoureteral reflux Thickened skin Inflammatory abnormality of the skin Choroid plexus papilloma Myocardial infarction Fine hair Cardiomegaly Abnormality of the cardiovascular system Progressive visual loss Bladder carcinoma Cardiomyocyte hypertrophy Loose anagen hair Intestinal malrotation Neonatal sepsis Overgrowth Asymmetric septal hypertrophy Multiple palmar creases Abnormality of the fingernails Acanthosis nigricans Myopathy Infantile muscular hypotonia Respiratory insufficiency Laryngomalacia Hypertension Cognitive impairment Oral aversion Pyloric stenosis Multiple plantar creases Eyelid fasciculation Aortic aneurysm Renal insufficiency Abnormality of the auditory canal Inappropriate crying Cutaneous T-cell lymphoma Morphological abnormality of the gastrointestinal tract Abnormality of the hairline Tongue thrusting Functional abnormality of the gastrointestinal tract Laryngeal cleft Generalized ichthyosis Hypoplasia of the frontal lobes Hyperglycemia Bilateral cryptorchidism Short chin Pes cavus Patchy alopecia Hydrops fetalis Epidermal acanthosis Hip dysplasia Atrial fibrillation Hypoplasia of dental enamel Long eyelashes Wide anterior fontanel Abnormality of the skin Sepsis Macroglossia Ascites Hematuria Wide nose Tachycardia Severe short stature Arthrogryposis multiplex congenita Abnormality of the hair Wide mouth Hoarse voice Apnea Intellectual disability, moderate Pointed chin Joint laxity Hypoglycemia Abnormality of dental enamel Respiratory failure Osteoporosis Optic nerve dysplasia Hypoplastic toenails Labial hypoplasia Abnormal heart valve morphology Anal stenosis Submucous cleft hard palate Neuroblastoma Rhabdomyolysis Ulnar deviation of finger Tracheomalacia Syringomyelia Neonatal hypoglycemia Soft skin Multiple cafe-au-lait spots Obstructive sleep apnea Severe postnatal growth retardation Long palpebral fissure Poor appetite Microscopic hematuria Megalencephaly Barrel-shaped chest Progeroid facial appearance Large earlobe Achilles tendon contracture Large forehead Infantile spasms Eczema Central apnea Lack of skin elasticity Neurofibromas Underdeveloped supraorbital ridges Atopic dermatitis Abnormal tricuspid valve morphology Slow-growing hair Abnormality of the optic disc Anterior creases of earlobe Frontal balding Endocarditis Increased nuchal translucency Sparse or absent eyelashes Cavernous hemangioma Abnormality of hair texture Excessive wrinkled skin Tricuspid regurgitation Abnormal aortic valve morphology Subvalvular aortic stenosis Gastrointestinal dysmotility Alopecia of scalp Rocker bottom foot Abnormal myocardium morphology Abnormality of the optic nerve Dystrophic fingernails Abnormal hair pattern Reduced subcutaneous adipose tissue Short attention span Abnormality of the gastrointestinal tract Abnormality of the ulna Absent eyelashes Enlarged kidney Keratoconus Abnormal eyelash morphology Verrucae Radioulnar synostosis Prominent forehead Involuntary movements Bowel incontinence Aphasia Hallux valgus Athetosis CNS hypomyelination Poor head control Drooling Intellectual disability, progressive Type I diabetes mellitus Bilateral single transverse palmar creases Narrow face Clonus Leukodystrophy Choreoathetosis Hyperactive deep tendon reflexes Interphalangeal joint contracture of finger Spastic tetraplegia Increased serum lactate Urinary incontinence Generalized muscle weakness Inability to walk Paraplegia Abnormality of movement Abnormality of the foot Spastic paraplegia Severe global developmental delay Camptodactyly of finger Joint stiffness Generalized amyotrophy Macroorchidism Abnormality of the pinna Mandibular prognathia Abnormality of the ribs Hypotension Iris coloboma Oral cleft Cleft upper lip Arachnodactyly Carious teeth Papule Coloboma Facial palsy Cleft lip Proteinuria Retrognathia Glaucoma Hypoplasia of the musculature Abdominal pain Brachycephaly Visual loss Microphthalmia Syndactyly Wide nasal bridge Cleft palate Underfolded superior helices Stahl ear Abnormal conjugate eye movement Prominent antihelix Increased thyroid-stimulating hormone level Rotary nystagmus Protruding ear Neonatal hypotonia Bradycardia Unsteady gait Truncal ataxia Fasciculations Hallucinations Limb ataxia Bradykinesia Neuronal loss in central nervous system Gliosis Parkinsonism Polyneuropathy Neurodegeneration Sensory neuropathy Distal amyotrophy Confusion Abnormality of eye movement External ophthalmoplegia Ophthalmoplegia Anxiety Rigidity Gait ataxia Diabetes mellitus Myoclonus Dementia Tremor Visual impairment Degeneration of anterior horn cells Abnormal lower motor neuron morphology EMG abnormality Distal muscle weakness Abnormal autonomic nervous system physiology Back pain Pes planus Chronic pain Hypothyroidism Upslanted palpebral fissure Hyporeflexia Gait disturbance Abnormal electrooculogram Palatal myoclonus Impaired horizontal smooth pursuit Downbeat nystagmus Delirium Dysmetric saccades Restless legs Hypometric saccades Torsion dystonia Low back pain Spinal muscular atrophy Myokymia Olivopontocerebellar atrophy Tongue fasciculations Spastic dysarthria Absent Achilles reflex Delusions Urinary bladder sphincter dysfunction Atrophy/Degeneration affecting the brainstem Decreased number of peripheral myelinated nerve fibers Amyotrophic lateral sclerosis Impaired vibratory sensation Akinesia Ophthalmoparesis Exotropia Spina bifida Alopecia Acute leukemia Abnormality of the lymphatic system Chylothorax Synovitis Abnormal hair quantity Enlarged thorax Myeloproliferative disorder Elevated circulating luteinizing hormone level Shield chest Aplasia/Hypoplasia of the abdominal wall musculature Abnormality of the spleen Elevated circulating follicle stimulating hormone level Abnormality of the helix High anterior hairline Abnormality of the mouth Abnormality of the mandible Pulmonary artery stenosis Acute lymphoblastic leukemia Aortic root aneurysm Male infertility Abnormality of digit Cystic hygroma Atrioventricular canal defect Prolonged bleeding time Abnormality of coagulation Abnormality of the thorax Abnormality of the urinary system Coarse hair Scapular winging Prolonged QRS complex Intestinal lymphangiectasia Amblyopia Abnormal anterior segment morphology Encephalopathy Kyphosis Splenomegaly Behavioral abnormality Congestive heart failure Hypertonia Vomiting Blindness Abnormality of the vestibular nerve Prominent digit pad Aplasia of lymphatic vessels Abnormal atrial septum morphology Abnormal lymphatic vessel morphology Abnormal nipple morphology Unilateral ptosis Morphological abnormality of the inner ear Aplasia of the semicircular canal Hypoplasia of lymphatic vessels Neurofibrosarcoma Amegakaryocytic thrombocytopenia Prominent nasolabial fold Superior pectus carinatum Reduced factor XII activity Reduced factor XI activity Abnormal platelet function Pulmonary lymphangiectasia Reduced factor VIII activity Prominent fingertip pads Aortic valve stenosis Abnormality of the genital system Short ribs Narrow nose Hamartomatous polyposis Cervical ribs Supernumerary ribs Ectopic calcification Medulloblastoma Astrocytoma Brain neoplasm Ulcerative colitis Broad face Neoplasm of the endocrine system Short 4th metacarpal Skin tags Down-sloping shoulders Sprengel anomaly Abnormality of the sense of smell Colitis Vertebral fusion Agenesis of permanent teeth Long fingers Basal cell carcinoma Milia Disproportionate tall stature Inflammation of the large intestine Nephritis Glomerulonephritis Neoplasm of the skin Spina bifida occulta Hemivertebrae Fibroma Vertebral wedging Mitral regurgitation Bridged sella turcica Tetralogy of Fallot Wide intermamillary distance Otitis media Triangular face Broad forehead Hepatosplenomegaly Patent ductus arteriosus Clinodactyly Midface retrusion Sensorineural hearing impairment Hamartomatous stomach polyps Irregular ossification of hand bones Cardiac fibroma Plantar pits Parietal bossing Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Orbital cyst Palmar pits Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Elongated superior cerebellar peduncle


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