Dysarthria, and Osteoarthritis

Diseases related with Dysarthria and Osteoarthritis

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

Top 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

Medium 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

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

Other less relevant 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

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

Gaucher disease type 1 is the chronic non-neurological form of Gaucher disease (GD; see this term) characterized by organomegaly, bone involvement and cytopenia.

GAUCHER DISEASE TYPE 1 Is also known as gaucher disease, juvenile and adult, cerebral|gd iii|gaucher disease, chronic neuronopathic type|non-cerebral juvenile gaucher disease|gaucher disease, subacute neuronopathic type

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GAUCHER DISEASE TYPE 1

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

Top 5 symptoms//phenotypes associated to Dysarthria and Osteoarthritis

Symptoms // Phenotype % cases
Arthritis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
Ataxia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Anemia Scoliosis Hyperreflexia Anxiety Depressivity Neurological speech impairment Aggressive behavior Hearing impairment Rigidity Dementia Weight loss Growth delay Dystonia Vomiting Fatigue Tremor Progressive neurologic deterioration Short stature Gait disturbance Pain Global developmental delay Delayed speech and language development Motor delay Behavioral abnormality Delayed skeletal maturation Cognitive impairment Hypertension Strabismus Hepatomegaly Rheumatoid arthritis Gliosis Dysphagia Gait ataxia Hepatosplenomegaly Splenomegaly Babinski sign Irritability Intellectual disability, mild Abnormality of the cerebral white matter Confusion Clumsiness Muscle weakness Involuntary movements Nystagmus Dental malocclusion Abnormality of the skeletal system Recurrent respiratory infections Paraplegia Osteopenia Arthralgia Generalized hypotonia

Rare Symptoms - Less than 30% cases

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


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