Dysarthria, and Arthritis

Diseases related with Dysarthria and Arthritis

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

Top 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

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

Other less relevant matches:

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

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

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

Alpha-mannosidosis is an autosomal recessive lysosomal storage disease characterized by mental retardation, coarse facial features, skeletal abnormalities, hearing impairment, neurologic motor problems, and immune deficiency. Expression of the disease varies considerably, and there is a wide spectrum of clinical findings and severity. Affected children are often normal at birth and during early development. They present in early childhood with delayed psychomotor development, delayed speech, and hearing loss. Additional features include large head with prominent forehead, rounded eyebrows, flattened nasal bridge, macroglossia, widely spaced teeth, dysostosis multiplex, and motor impairment (summary by Malm and Nilssen, 2008). Classification SystemsTwo classification systems have been used to describe the clinical presentation of alpha-mannosidosis. The earlier system delineated a more severe 'type I,' which shows infantile onset, rapid mental deterioration, hypotonia, splenomegaly, severe dysostosis multiplex, and severe recurrent infections, often resulting in death by age 8 years. Individuals with the less severe 'type II' show normal early development with later childhood development of mental retardation, hearing loss, coarse facies, neurologic deterioration, and survival well into adulthood (summary by Desnick et al., 1976 and Gotoda et al., 1998). A later classification system delineated 3 clinical types. Type 1 is the mildest form, with onset after age 10 years, without skeletal abnormalities and very slow progression. Type 2 is a moderate form, with onset before age 10 years, presence of skeletal abnormalities, and slow progression with development of ataxia by age 20 to 30 years. Type 3 is the severe form, with onset in early infancy, skeletal abnormalities, and obvious progression leading to early death from primary central nervous system involvement or myopathy. Most patients belong to clinical type 2 (summary by Malm and Nilssen, 2008). Despite the clinical heterogeneity of the disorder, there are no apparent genotype/phenotype correlations (Berg et al., 1999; Riise Stensland et al., 2012).

MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA Is also known as alpha-mannosidosis|lysosomal alpha-d-mannosidase deficiency|alpha-mannosidase b deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MANNOSIDOSIS, ALPHA B, LYSOSOMAL; MANSA

Takayasu arteritis (TAK) is a rare inflammatory large-vessel vasculitis primarily affecting the aorta and its major branches, but also other large vessels, causing stenosis, occlusion, or aneurysm.

TAKAYASU ARTERITIS Is also known as young female arteritis|aortic arch syndrome|pulseless disease

Related symptoms:

  • Seizures
  • Muscle weakness
  • Anemia
  • Hypertension
  • Fever


SOURCES: ORPHANET OMIM MENDELIAN

More info about TAKAYASU ARTERITIS

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

Lethal ataxia with deafness and optic atrophy (also known as Arts syndrome) is characterized by intellectual deficit, early-onset hypotonia, ataxia, delayed motor development, hearing impairment and loss of vision due to optic atrophy.

LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY Is also known as mrxsarts|arts syndrome|mental retardation, x-linked, syndromic, arts type|mrxs18|mental retardation, x-linked, syndromic 18|ataxia, fatal x-linked, with deafness and loss of vision

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about LETHAL ATAXIA WITH DEAFNESS AND OPTIC ATROPHY

Top 5 symptoms//phenotypes associated to Dysarthria and Arthritis

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Aggressive behavior Uncommon - Between 30% and 50% cases
Hearing impairment Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anxiety Seizures Spasticity Cognitive impairment Rigidity Depressivity Hypertension Tremor Growth delay Global developmental delay Babinski sign Gait disturbance Weight loss Nystagmus Scoliosis Intellectual disability, mild Dystonia Vomiting Generalized hypotonia Dysphagia Behavioral abnormality Motor delay Delayed speech and language development Anemia Pain Muscular hypotonia Progressive neurologic deterioration Dementia Abnormality of the skeletal system Delayed skeletal maturation Involuntary movements Gliosis Dental malocclusion Gait ataxia Short stature Arthralgia Fatigue Abnormality of the cerebral white matter Confusion Areflexia Neurological speech impairment Irritability Sensorineural hearing impairment Rheumatoid arthritis Muscle weakness Paraplegia Peripheral neuropathy Clumsiness

Rare Symptoms - Less than 30% cases

Osteopenia Macrotia Visual impairment Posteriorly rotated ears Fever Hydrocephalus Hyporeflexia Headache Coma Brachydactyly Constipation Malabsorption Micrognathia Paresthesia Vasculitis Peripheral axonal neuropathy Hallucinations Polyneuropathy Thin upper lip vermilion Migraine Peripheral demyelination Umbilical hernia Hyperlordosis Hypermetropia Drooling Abnormality of the hand Recurrent infections Immunodeficiency Talipes equinovarus Optic atrophy Strabismus Psychosis Short neck Abnormality of the dentition Dilatation Inguinal hernia Hypothyroidism Mandibular prognathia Nephrocalcinosis Poor speech Pectus carinatum Narrow palate Spastic paraplegia Smooth philtrum Bulbous nose Microdontia Kyphoscoliosis Osteoarthritis Otitis media Difficulty walking Limb dystonia Neoplasm Hepatomegaly Splenomegaly Cerebral atrophy Hepatosplenomegaly Spondylolisthesis Recurrent respiratory infections Infertility Cerebellar atrophy Abnormality of extrapyramidal motor function Personality changes Finger clinodactyly Nephrolithiasis Schizophrenia Cerebral palsy Ventriculomegaly Mental deterioration Type II diabetes mellitus Clinodactyly Clinodactyly of the 5th finger Abnormality of movement Nephropathy Chorea Oral-pharyngeal dysphagia Hyperactivity Obsessive-compulsive behavior Testicular atrophy Abnormal cerebellum morphology Progressive cerebellar ataxia Focal dystonia Spastic gait Gout Hypertonia Neurodegeneration Neuronal loss in central nervous system Renal insufficiency Bradykinesia Bronchitis Decreased nerve conduction velocity Epicanthus Hernia Midface retrusion Frontal bossing Skeletal muscle atrophy Myopia Arnold-Chiari type I malformation Malar flattening Macrocephaly Kyphosis Myopathy Intellectual disability, severe Prominent forehead Torticollis Skeletal dysplasia Hip dysplasia Low anterior hairline Limb ataxia Gingival overgrowth Amblyopia Tall stature Tetraplegia Progressive visual loss Bowing of the long bones Hypertrichosis Depressed nasal ridge Pancytopenia Optic disc pallor Decreased antibody level in blood Coarse facial features Delayed myelination Macroglossia Progressive muscle weakness Highly arched eyebrow Thick eyebrow Retinal degeneration Dysmetria Genu valgum Abnormality of the foot Corneal opacity Sensorimotor neuropathy Respiratory tract infection Recurrent upper respiratory tract infections Broad forehead Broad fingertip Depressed nasal bridge Clubbing Abnormality of the clavicle Short columella Cone-shaped epiphyses of the phalanges of the hand Lipoma Sprengel anomaly Short clavicles Proportionate short stature Celiac disease High pitched voice Preauricular pit Impulsivity Language impairment Enuresis Trigonocephaly Abnormality of the voice Nasal speech Abnormality of the fingernails Generalized hirsutism Short thumb Long eyelashes Broad thumb Recurrent otitis media Short palpebral fissure Low posterior hairline Parietal cortical atrophy Short attention span Increased urinary hypoxanthine Cataract Varicocele Hypertelorism Mesocardia Generalized cerebral atrophy/hypoplasia Abnormal soft palate morphology Curved fingers Enlarged naris Epididymal cyst Congenital posterior urethral valve Congenital pseudoarthrosis of the clavicle Pseudoarthrosis Persistent left superior vena cava Expressive language delay Muscle mounding Short upper lip Spinal dysraphism Stiff neck Tethered cord Broad columella Low frustration tolerance Hyperextensibility of the finger joints Pancreatic fibrosis Speech apraxia Enlarged joints 11 pairs of ribs Villous atrophy Recurrent bacterial infections Heart murmur Neonatal hypotonia Skin ulcer Arterial stenosis Abnormal pattern of respiration Inflammatory abnormality of the eye Abnormal aortic valve morphology Reduced consciousness/confusion Cerebral ischemia Gangrene Hemoptysis Abnormal heart valve morphology Psoriasiform dermatitis Aortic regurgitation Anorexia Infantile encephalopathy Subcutaneous nodule Myocardial infarction Pulmonary arterial hypertension Chest pain Retinopathy Hypertrophic cardiomyopathy Myalgia Hyperhidrosis Spinocerebellar tract disease in lower limbs Flattened moderately deformed vertebrae Synovial hypertrophy Progressive joint destruction Ascending tubular aorta aneurysm Abnormal endocardium morphology Antineutrophil antibody positivity Pes cavus Parkinsonism Dysphonia Postural tremor Spastic diplegia Brisk reflexes Gaze-evoked nystagmus Lower limb hyperreflexia Resting tremor Hyperactive deep tendon reflexes Sleep disturbance Abnormal pyramidal sign Impaired vibration sensation in the lower limbs Amaurosis fugax Encephalopathy Generalized dystonia Upper motor neuron dysfunction Increased inflammatory response Torsion dystonia Parkinsonism with favorable response to dopaminergic medication Oromandibular dystonia Writer's cramp Hypertensive crisis Axial dystonia Arteritis Gastrointestinal infarctions Abnormality of dental structure Obsessive-compulsive trait Widely spaced teeth Femoral bowing Reduced ejection fraction Hydrocele testis Dysostosis multiplex Impaired smooth pursuit Delusions Patellar dislocation Severe sensorineural hearing impairment Aseptic necrosis Absent speech Thickened calvaria Abnormality of the sternum Neurodevelopmental delay Respiratory insufficiency Bowel incontinence Open bite Bowing of the legs Flat occiput Visual loss Elevated serum creatine phosphokinase Horizontal nystagmus Pneumonia Chronic otitis media Cerebral cortical atrophy Prominent supraorbital ridges Increased intracranial pressure Abnormality of the helix Craniofacial hyperostosis Abnormality of joint mobility Oligosacchariduria Progressive flexion contractures Abnormality of the ilium Apraxia Hypoplastic inferior ilia Transient hyperphenylalaninemia Decreased pulmonary function Generalized abnormality of skin Increased hepatic glycogen content Increased vertebral height Spondylolysis Fixed facial expression Abnormality of the substantia nigra Synostosis of joints Abnormality of the rib cage Cerebral dysmyelination Retinal thinning Decreased CSF homovanillic acid Paresis of extensor muscles of the big toe Long ear Abnormality of the gingiva Cranial hyperostosis Vacuolated lymphocytes Thoracolumbar kyphosis Abnormal echocardiogram Synovitis Abnormal cornea morphology Interphalangeal joint contracture of finger Chondrocalcinosis Coarctation of aorta Syringomyelia Orthostatic hypotension due to autonomic dysfunction Psychomotor deterioration Urinary retention Sensory ataxia Abnormal renal physiology Myelopathy Constrictive median neuropathy Stroke-like episode Multiple myeloma Restrictive cardiomyopathy Increased CSF protein Amyloidosis Cardiac amyloidosis Decreased number of peripheral myelinated nerve fibers Orthostatic hypotension Axonal degeneration Aphasia Malnutrition Impotence Cerebral hemorrhage Cachexia Atrioventricular block Spastic paraparesis Paraparesis Vitreous floaters Amyloid deposition in the vitreous humor Hemiparesis Sparse scalp hair Spastic ataxia Slow-growing hair Avascular necrosis of the capital femoral epiphysis Sparse lateral eyebrow Progressive spastic paraplegia Short finger Cone-shaped epiphysis Deep philtrum Short metatarsal Infantile muscular hypotonia Scapular winging Fine hair Long philtrum Short metacarpal Delayed eruption of teeth Carious teeth Hypotrichosis Stroke Sparse hair Protruding ear Low-set, posteriorly rotated ears Pes planus Hypogonadism Alopecia Abnormal autonomic nervous system physiology Cardiomegaly Thin eyebrow Megaloblastic anemia Falls Abnormality of eye movement Cough Diabetes mellitus Myoclonus Podagra Bladder stones Excessive purine production Hyperuricosuria Facial grimacing Dyslexia Self-mutilation Generalized-onset seizure Hyperuricemia Opisthotonus Athetosis Proximal placement of thumb Self-injurious behavior Stereotypy Recurrent urinary tract infections Choreoathetosis Hematuria Hip dislocation Flexion contracture Brain atrophy Broad-based gait Bilateral sensorineural hearing impairment Abnormal involuntary eye movements Hypotension Urinary incontinence Facial palsy Arrhythmia Congestive heart failure Diarrhea Cardiomyopathy Oral motor hypotonia Frequent temper tantrums Suicidal ideation Neuronal loss in basal ganglia Mania Hyperkinesis Paranoia Dilated fourth ventricle Chronic bronchitis Head tremor Upper limb undergrowth Restlessness Cerebellar vermis atrophy Muscle fibrillation Hypokinesia Akinesia Slurred speech Incoordination Concave nail Leukonychia Hypoplasia of penis Mixed demyelinating and axonal polyneuropathy Abnormality of cardiovascular system morphology Atrial septal defect Intrauterine growth retardation Wide nasal bridge High palate Low-set ears Cryptorchidism Abnormal facial shape Microcephaly Atypical or prolonged hepatitis Kayser-Fleischer ring High nonceruloplasmin-bound serum copper Abnormal heart morphology Acute hepatitis Hypersexuality Poor motor coordination Hypocupremia Premature osteoarthritis Abnormality of the menstrual cycle Retinoblastoma Proximal muscle weakness in lower limbs Menstrual irregularities Neoplasm of the liver Hyperphosphaturia Hypospadias Upslanted palpebral fissure Acute hepatic failure Prominent nasal bridge Underdeveloped nasal alae Prominent nose Broad nasal tip Triangular face Hypoplasia of the maxilla Small hand Downturned corners of mouth Hirsutism Thin vermilion border Joint hyperflexibility Small for gestational age Short philtrum Gastroesophageal reflux Camptodactyly of finger Craniosynostosis Wide mouth Joint stiffness Postnatal growth retardation Feeding difficulties in infancy Intellectual disability, moderate Telecanthus Joint laxity Hydronephrosis Conductive hearing impairment Deeply set eye Esophageal varix Renal tubular dysfunction Pseudohypoparathyroidism Edema Cirrhosis Nausea Nausea and vomiting Pruritus Abnormality of the liver Abnormality of the nervous system Proteinuria Elevated hepatic transaminase Jaundice Osteoporosis Thrombocytopenia Failure to thrive Hepatic failure 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 Joint hypermobility Bruising susceptibility Increased reactive oxygen species production Hypercalciuria Hand tremor Hypoparathyroidism Hepatocellular carcinoma Joint swelling Abnormality of blood and blood-forming tissues Arthropathy Osteomalacia Glycosuria Pathologic fracture Global brain atrophy Abnormality of mitochondrial metabolism Back pain Hemolytic anemia Leukoencephalopathy Leukopenia Aminoaciduria Spontaneous abortion Muscle stiffness Increased body weight Bone pain Decreased liver function Cholestasis Hepatitis Ascites Hepatic steatosis Spinal cord posterior columns myelin loss


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Abnormal bleeding, related diseases and genetic alterations