Dysarthria, and Rheumatoid arthritis

Diseases related with Dysarthria and Rheumatoid arthritis

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

Top matches:

Juvenile Huntington disease (JHD) is a form of Huntington disease (HD; see this term), characterized by onset of signs and symptoms before 20 years of age.

JUVENILE HUNTINGTON DISEASE Is also known as huntington chorea|jhd|juvenile huntington chorea

Related symptoms:

  • Seizures
  • Ataxia
  • Cognitive impairment
  • Anemia
  • Delayed speech and language development


SOURCES: OMIM ORPHANET MENDELIAN

More info about JUVENILE HUNTINGTON DISEASE

Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

DYSTONIA, DOPA-RESPONSIVE; DRD Is also known as dystonia, progressive, with diurnal variation|dystonia 5|segawa syndrome, autosomal dominant|dystonia, dopa-responsive, autosomal dominant|dopa-responsive dystonia, autosomal dominant|dystonia-parkinsonism with diurnal fluctuation|dyt5

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about DYSTONIA, DOPA-RESPONSIVE; DRD

Other less relevant matches:

LESCH-NYHAN SYNDROME; LNS Is also known as hprt deficiency, complete|hypoxanthine guanine phosphoribosyltransferase 1 deficiency|hprt deficiency|hprt1 deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about LESCH-NYHAN SYNDROME; LNS

VELOCARDIOFACIAL SYNDROME Is also known as chromosome 22q11.2 deletion syndrome|shprintzen vcf syndrome|vcf syndrome|vcfs

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about VELOCARDIOFACIAL SYNDROME

Trichorhinophalangeal syndrome type I is a malformation syndrome characterized by distinctive craniofacial and skeletal abnormalities and is inherited as an autosomal dominant (Momeni et al., 2000). TRPS I patients have sparse scalp hair, bulbous tip of the nose, long flat philtrum, thin upper vermilion border, and protruding ears. Skeletal abnormalities include cone-shaped epiphyses at the phalanges, hip malformations, and short stature.

TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1 Is also known as trps i

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about TRICHORHINOPHALANGEAL SYNDROME, TYPE I; TRPS1

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

Low match WILSON DISEASE

Wilson disease is a very rare inherited multisystemic disease presenting non-specific neurological, hepatic, psychiatric or osseo-muscular manifestations due to excessive copper deposition in the body.

WILSON DISEASE Is also known as wd|hepatolenticular degeneration|wnd

Related symptoms:

  • Intellectual disability
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Spasticity


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about WILSON DISEASE

Leukocyte adhesion deficiency (LAD) is an autosomal recessive disorder of neutrophil function resulting from a deficiency of the beta-2 integrin subunit of the leukocyte cell adhesion molecule. The leukocyte cell adhesion molecule is present on the surface of peripheral blood mononuclear leukocytes and granulocytes and mediates cell-cell and cell-extracellular matrix adhesion. LAD is characterized by recurrent bacterial infections; impaired pus formation and wound healing; abnormalities of a wide variety of adhesion-dependent functions of granulocytes, monocytes, and lymphocytes; and a lack of beta-2/alpha-L, beta-2/alpha-M, and beta-2/alpha-X expression.

LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD Is also known as lad1|lymphocyte function-associated antigen 1 immunodeficiency|lfa1 immunodeficiency

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Intellectual disability, severe
  • Immunodeficiency


SOURCES: OMIM MENDELIAN

More info about LEUKOCYTE ADHESION DEFICIENCY, TYPE I; LAD

Floating-Harbor syndrome is a genetic developmental disorder characterized by facial dysmorphism, short stature with delayed bone age, and expressive language delay.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about FLOATING-HARBOR SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Rheumatoid arthritis

Symptoms // Phenotype % cases
Arthritis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Seizures Uncommon - Between 30% and 50% cases
Behavioral abnormality Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Generalized hypotonia Hearing impairment Aggressive behavior Anxiety Scoliosis Anemia Rigidity Clumsiness Global developmental delay Hyperreflexia Vomiting Hypothyroidism Spasticity Tremor Delayed speech and language development Dementia Dystonia Depressivity Thrombocytopenia Clinodactyly of the 5th finger Pain Involuntary movements Schizophrenia Otitis media Abnormal facial shape Microcephaly Hypertension Nystagmus Ataxia Obsessive-compulsive behavior High palate Thin upper lip vermilion Smooth philtrum Abnormality of the skeletal system Growth delay Irritability Bulbous nose Dysphagia Gait disturbance Muscular hypotonia Paraplegia Hyperactivity Confusion Posteriorly rotated ears Motor delay Abnormality of the hand Cognitive impairment Chorea Micrognathia Weight loss

Rare Symptoms - Less than 30% cases

Intellectual disability, severe Immunodeficiency Hernia Recurrent infections Inguinal hernia Abnormal heart morphology Abnormality of cardiovascular system morphology Hypospadias Obesity Joint laxity Oral-pharyngeal dysphagia Atrial septal defect Focal dystonia Fatigue Hypertonia Babinski sign Difficulty walking Hyperlordosis Spastic paraplegia Abnormality of extrapyramidal motor function Cerebral palsy Intellectual disability, mild Short neck Clinodactyly Nephrolithiasis Finger clinodactyly Umbilical hernia Kyphoscoliosis Nephrocalcinosis Bruising susceptibility Cataract Ventricular septal defect Retrognathia Gingivitis Conductive hearing impairment Neurological speech impairment Short metatarsal Prominent nose Hypoplasia of the maxilla Small hand Joint hypermobility Joint hyperflexibility Failure to thrive Strabismus Cryptorchidism Intrauterine growth retardation Microdontia Small for gestational age Prominent nasal bridge Short philtrum Edema Wide mouth Dilatation Postnatal growth retardation Feeding difficulties in infancy Intellectual disability, moderate Osteoarthritis Dental malocclusion Poor speech Juvenile rheumatoid arthritis Hemolytic anemia Underdeveloped nasal alae Psychosis Low posterior hairline Neoplasm Open mouth Nasal speech Hypoparathyroidism Mandibular prognathia Celiac disease Short metacarpal Recurrent skin infections Brachydactyly Delayed skeletal maturation Macrotia Arthralgia Pes planus Long eyelashes Protruding ear Stroke Leukopenia Gastroesophageal reflux Progressive neurologic deterioration Fever Polyneuropathy Nephropathy Sensorineural hearing impairment Cerebral hemorrhage Peripheral axonal neuropathy Neuronal loss in central nervous system Paresthesia Hydrocephalus Coma Bradykinesia Cardiomyopathy Personality changes Malabsorption Testicular atrophy Constipation Renal insufficiency Headache Abnormal cerebellum morphology Gliosis Mental deterioration Cerebellar atrophy Gait ataxia Peripheral neuropathy Peripheral demyelination Paranoia Abnormality of the cerebral white matter Hallucinations Infertility Abnormality of movement Visual impairment Diabetes mellitus Radioulnar synostosis Precocious puberty Reduced number of teeth Laryngomalacia Intracranial hemorrhage Cone-shaped epiphyses of the phalanges of the hand Abnormality of the clavicle Lipoma Short columella Preauricular skin tag Low anterior hairline Venous thrombosis Intellectual disability, progressive Sandal gap Failure to thrive in infancy Recurrent bacterial skin infections Sprengel anomaly Cubitus valgus Vocal cord paralysis Tapetoretinal degeneration Recurrent aphthous stomatitis Aplasia/Hypoplasia of the earlobes Abnormality of the larynx Bone spicule pigmentation of the retina Macular edema Proportionate short stature Furrowed tongue Deep venous thrombosis Misalignment of teeth Facial hypotonia Microglossia Constriction of peripheral visual field Posterior subcapsular cataract Hiatus hernia Short clavicles Peripheral visual field loss Thoracic scoliosis Subcapsular cataract Weak cry Narrow nasal bridge Abnormality of the hip bone Truncal obesity Disproportionate tall stature Abnormality of dental morphology Progressive microcephaly Enlarged joints Abnormality of retinal pigmentation Synophrys Pseudoarthrosis High, narrow palate Thick vermilion border Retinal dystrophy Iris coloboma Thick eyebrow Abnormality of skin pigmentation Retinal degeneration Arachnodactyly Astigmatism Genu valgum Delayed puberty Congenital pseudoarthrosis of the clavicle Congenital posterior urethral valve Highly arched eyebrow Severe global developmental delay Epididymal cyst Finger syndactyly Enlarged naris Curved fingers Nyctalopia Retinopathy Broad fingertip Paralysis Respiratory tract infection Abnormal soft palate morphology Neonatal hypotonia Generalized cerebral atrophy/hypoplasia Retinal detachment Tapered finger Gingival overgrowth Tethered cord Exotropia Short attention span Enuresis Villous atrophy 11 pairs of ribs Iris atrophy Speech apraxia Hyperextensibility of the finger joints Tall stature Broad columella Lumbar hyperlordosis High myopia Decreased fetal movement Mitral valve prolapse Single transverse palmar crease Stiff neck Spinal dysraphism Narrow forehead Pigmentary retinopathy Short upper lip Progressive visual loss Convex nasal ridge Expressive language delay Varicocele Aciduria Growth hormone deficiency Persistent left superior vena cava Microcornea Neutropenia Thick hair Hemeralopia Macrodontia Telecanthus Menstrual irregularities Neoplasm of the liver Hyperphosphaturia Esophageal varix Chondrocalcinosis Acute hepatic failure Renal tubular dysfunction Increased reactive oxygen species production Hand tremor Hepatocellular carcinoma Joint swelling Abnormality of blood and blood-forming tissues Joint stiffness Retinoblastoma Craniosynostosis Camptodactyly of finger Arthropathy Hypermetropia Thin vermilion border Hirsutism Osteomalacia Glycosuria Pathologic fracture Global brain atrophy Downturned corners of mouth Abnormality of mitochondrial metabolism Hypercalciuria Proximal muscle weakness in lower limbs Hydronephrosis Back pain Recurrent bacterial infections Decreased platelet glycoprotein IIb-IIIa Abnormal thrombocyte morphology Severe periodontitis Peritonitis Abnormal granulocyte morphology Periodontitis Recurrent staphylococcal infections Recurrent gram-negative bacterial infections Low-set ears Cellulitis Wide nasal bridge Abnormality of the dentition Leukocytosis Upslanted palpebral fissure Abnormality of the menstrual cycle Epistaxis Abnormal bleeding Deeply set eye Pneumonia Atypical or prolonged hepatitis Kayser-Fleischer ring Mixed demyelinating and axonal polyneuropathy High nonceruloplasmin-bound serum copper Acute hepatitis Hypersexuality Poor motor coordination Hypocupremia Premature osteoarthritis Triangular face Drooling Bull's eye maculopathy Childhood-onset truncal obesity Proteinuria Elevated hepatic transaminase Hepatosplenomegaly Jaundice Preauricular pit Osteoporosis Cerebral atrophy Splenomegaly Hepatomegaly High pitched voice Slender toe Cat cry Hypoplastic philtrum Macrodontia of permanent maxillary central incisor Abnormality of the liver Prominent eyelashes Thick corpus callosum High-pitched cry Chorioretinal dysplasia Narrow philtrum Narrow palm Rectal abscess Cutis gyrata of scalp Chorioretinal dystrophy Laryngeal stenosis Hyperplasia of the maxilla Congenital neutropenia Granulocytopenia Abnormality of the nervous system Pruritus Broad nasal tip Interphalangeal joint contracture of finger Hypoplasia of penis Aminoaciduria Spontaneous abortion Muscle stiffness Increased body weight Bone pain Decreased liver function Cholestasis Hepatitis Ascites Hepatic steatosis Coarctation of aorta Apraxia Short palpebral fissure Nausea and vomiting Recurrent otitis media Broad thumb Hepatic failure Short thumb Generalized hirsutism Abnormality of the fingernails Abnormality of the voice Cirrhosis Nausea Trigonocephaly Language impairment Clubbing Impulsivity Leukoencephalopathy Osteopenia Reduced visual acuity Postural tremor Oromandibular dystonia Parkinsonism with favorable response to dopaminergic medication Torsion dystonia Upper motor neuron dysfunction Generalized dystonia Limb dystonia Impaired vibration sensation in the lower limbs Hyperactive deep tendon reflexes Resting tremor Lower limb hyperreflexia Gaze-evoked nystagmus Brisk reflexes Spastic diplegia Dysphonia Axial dystonia Torticollis Horizontal nystagmus Parkinsonism Sleep disturbance Abnormal pyramidal sign Pes cavus Encephalopathy Talipes equinovarus Amyloid deposition in the vitreous humor Cardiac amyloidosis Vitreous floaters Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Writer's cramp Infantile encephalopathy Sensory ataxia Athetosis Hypoplasia of the corpus callosum Cleft palate Podagra Bladder stones Excessive purine production Hyperuricosuria Facial grimacing Dyslexia Megaloblastic anemia Gout Self-mutilation Hyperuricemia Opisthotonus Proximal placement of thumb Obsessive-compulsive trait Self-injurious behavior Spastic gait Stereotypy Recurrent urinary tract infections Choreoathetosis Hematuria Hip dislocation Flexion contracture Paresis of extensor muscles of the big toe Decreased CSF homovanillic acid Abnormality of the substantia nigra Fixed facial expression Transient hyperphenylalaninemia Progressive flexion contractures Urinary retention Abnormal renal physiology Patent ductus arteriosus Hypokinesia Frequent temper tantrums Suicidal ideation Neuronal loss in basal ganglia Abnormal involuntary eye movements Mania Dilated fourth ventricle Chronic bronchitis Head tremor Upper limb undergrowth Restlessness Cerebellar vermis atrophy Bronchitis Muscle fibrillation Akinesia Muscle weakness Slurred speech Incoordination Hyperkinesis Broad-based gait Type II diabetes mellitus Generalized-onset seizure Brain atrophy Progressive cerebellar ataxia Neurodegeneration Falls Abnormality of eye movement Cough Myoclonus Ventriculomegaly Oral motor hypotonia Diarrhea Myelopathy Cachexia Constrictive median neuropathy Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Syringomyelia Amyloidosis Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Axonal degeneration Aphasia Malnutrition Impotence Atrioventricular block Congestive heart failure Spastic paraparesis Paraparesis Abnormal autonomic nervous system physiology Vasculitis Hemiparesis Cardiomegaly Bilateral sensorineural hearing impairment Hypotension Migraine Urinary incontinence Facial palsy Hyporeflexia Areflexia Arrhythmia Absent speech Abnormality of the pinna Rod-cone dystrophy Hypotrichosis Spondylolisthesis Sparse lateral eyebrow Progressive spastic paraplegia Short finger Cone-shaped epiphysis Deep philtrum Infantile muscular hypotonia Scapular winging Narrow palate Sparse scalp hair Fine hair Delayed eruption of teeth Carious teeth Pectus carinatum Slow-growing hair Sparse hair Low-set, posteriorly rotated ears Hypogonadism Recurrent respiratory infections Alopecia Long philtrum Unilateral primary pulmonary dysgenesis Unilateral lung agenesis Sacral meningocele Right aortic arch with mirror image branching Congenital conductive hearing impairment Perineal fistula Vascular ring Central nervous system degeneration Avascular necrosis of the capital femoral epiphysis Spastic ataxia Aplasia of the thymus Ptosis Cerebellar hypoplasia Visual loss Pectus excavatum Microphthalmia Malar flattening Kyphosis Blindness Respiratory distress Downslanted palpebral fissures Macrocephaly Optic atrophy Myopia Depressed nasal bridge Hypertelorism Concave nail Ivory epiphyses of the distal phalanges of the hand Swelling of proximal interphalangeal joints Cone-shaped epiphyses of the proximal phalanges of the hand Chin with horizontal crease Accelerated bone age after puberty Coxa magna Abnormally low-pitched voice Cone-shaped epiphyses of the middle phalanges of the hand Pear-shaped nose Thin nail Flat capital femoral epiphysis Pseudohypoparathyroidism Leukonychia Thin eyebrow Arteria lusoria Psychotic episodes Blepharophimosis Multicystic kidney dysplasia Inflammation of the large intestine Hypoplasia of the brainstem Acne Unilateral renal agenesis Apathy Psoriasiform dermatitis Dysdiadochokinesis Cholelithiasis Arnold-Chiari malformation Bicuspid aortic valve Holoprosencephaly Purpura Narrow palpebral fissure Hypocalcemia Abnormality of the ear Spina bifida Renal dysplasia Primary amenorrhea Tetralogy of Fallot Amenorrhea Specific learning disability Renal agenesis Vesicoureteral reflux Bifid uvula Dysmetria Anal atresia Pulmonic stenosis Congenital cataract Autoimmunity Myopathic facies Basal ganglia calcification Conotruncal defect Pulmonary artery atresia Velopharyngeal insufficiency Giant platelets Retinal vascular tortuosity Duodenal stenosis Impaired T cell function Right aortic arch Mood swings Platybasia Perimembranous ventricular septal defect Interrupted aortic arch Graves disease Aplasia of the uterus Seborrheic dermatitis Abnormality of the endocrine system Autoimmune hemolytic anemia Echolalia Myelomeningocele Truncus arteriosus Pierre-Robin sequence Delusions Meningocele Hearing abnormality Vitiligo Bipolar affective disorder Posterior embryotoxon Anal stenosis Autoimmune thrombocytopenia Submucous cleft hard palate Axonal loss Mesocardia


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