Dysarthria, and Glioma

Diseases related with Dysarthria and Glioma

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

Top matches:

Neuronal ceroid lipofuscinosis-4B is an autosomal dominant neurodegenerative disorder characterized by onset of symptoms in adulthood. It belongs to a group of progressive neurodegenerative diseases characterized by accumulation of intracellular autofluorescent lipopigment storage material in the brain and other tissues. Several different forms have been described according to age of onset (see, e.g., CLN3, {204200}). Individuals with the adult form, sometimes referred to as Kufs disease, develop psychiatric manifestations, seizures, cerebellar ataxia, and cognitive decline. Retinal degeneration is usually not present (summary by Benitez et al., 2011 and Velinov et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of CLN, see CLN1 (OMIM ).

CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B Is also known as ceroid lipofuscinosis, neuronal, parry type|kufs disease, autosomal dominant

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Dysarthria
  • Tremor


SOURCES: OMIM MENDELIAN

More info about CEROID LIPOFUSCINOSIS, NEURONAL, 4B, AUTOSOMAL DOMINANT; CLN4B

Medium match LYNCH SYNDROME

LYNCH SYNDROME Is also known as coca2|colon cancer, familial nonpolyposis, type 2|fcc2

Related symptoms:

  • Seizures
  • Neoplasm
  • Muscular hypotonia
  • Flexion contracture
  • Visual impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about LYNCH SYNDROME

In patients with SSMED, short stature and microcephaly are apparent at birth, and there is progressive postnatal growth failure. Endocrine dysfunction, including hypergonadotropic hypogonadism, multinodular goiter, and diabetes mellitus, is present in affected adults. Progressive ataxia has been reported in some patients, with onset ranging from the second to fifth decade of life. In addition, a few patients have developed tumors, suggesting that there may be a predisposition to tumorigenesis. In contrast to syndromes involving defects in other components of the nonhomologous end-joining (NHEJ) complex (see, e.g., {606593}), no clinically overt immunodeficiency has been observed in SSMED, although laboratory analysis has revealed lymphopenia or borderline leukopenia in some patients (Murray et al., 2015; Bee et al., 2015; de Bruin et al., 2015; Guo et al., 2015).

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about SHORT STATURE, MICROCEPHALY, AND ENDOCRINE DYSFUNCTION; SSMED

Other less relevant matches:

Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait spots, Lisch nodules in the eye, and fibromatous tumors of the skin. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors. NF1 is sometimes referred to as 'peripheral neurofibromatosis.' The worldwide incidence of NF1 is 1 in 2,500 to 1 in 3,000 individuals (reviews by Shen et al., 1996 and Williams et al., 2009).Type II neurofibromatosis (NF2 ) is a genetically distinct disorder caused by mutation in the gene encoding merlin (NF2 ) on chromosome 22q12. NF2, sometimes known as 'central neurofibromatosis,' is characterized by bilateral acoustic neuroma and meningioma, but few skin lesions or neurofibromas (Rouleau et al., 1993).Some patients with homozygous or compound heterozygous mutations in mismatch repair genes (see, e.g., MLH1; {120436} and MSH2; {609309}) have a phenotype characterized by early onset malignancies and mild features of NF1, especially cafe-au-lait spots; this is known as the mismatch repair cancer syndrome (OMIM ), sometimes referred to as brain tumor-polyposis syndrome-1 or Turcot syndrome. These patients typically do not have germline mutations in the NF1 gene, although a study by Wang et al. (2003) suggested that biallelic mutations in mismatch repair genes may cause somatic mutations in the NF1 gene, perhaps resulting in isolated features resembling NF1.See also Legius syndrome (OMIM ), a genetically distinct disorder with a similar phenotype to NF1.

NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION Is also known as von recklinghausen disease due to nf1 mutation or intragenic deletion|neurofibromatosis, peripheral type|von recklinghausen disease

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Hypertelorism


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 1 DUE TO NF1 MUTATION OR INTRAGENIC DELETION

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

CHOREA, BENIGN HEREDITARY; BHC Is also known as hereditary progressive chorea without dementia|bch

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Motor delay
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about CHOREA, BENIGN HEREDITARY; BHC

ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1 Is also known as adsa

Related symptoms:

  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Dysphagia
  • Congestive heart failure


SOURCES: OMIM MENDELIAN

More info about ATAXIA, SENSORY, 1, AUTOSOMAL DOMINANT; SNAX1

Related symptoms:

  • Ataxia
  • Dysarthria
  • Gait disturbance
  • Cerebral atrophy
  • Depressivity


SOURCES: MESH OMIM MENDELIAN

More info about SPONGIFORM ENCEPHALOPATHY WITH NEUROPSYCHIATRIC FEATURES

Low match PERRY SYNDROME

Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.

PERRY SYNDROME Is also known as parkinsonism with alveolar hypoventilation and mental depression

Related symptoms:

  • Dysarthria
  • Tremor
  • Respiratory insufficiency
  • Behavioral abnormality
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PERRY SYNDROME

Top 5 symptoms//phenotypes associated to Dysarthria and Glioma

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Neuronal loss in central nervous system Common - Between 50% and 80% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Behavioral abnormality Uncommon - Between 30% and 50% cases
Depressivity Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Neoplasm Dementia Gliosis Memory impairment Weight loss Anxiety Astrocytoma Cognitive impairment Attention deficit hyperactivity disorder Abnormality of extrapyramidal motor function Seizures Abnormal cerebellum morphology Tremor Hearing impairment Rigidity

Rare Symptoms - Less than 30% cases

Anemia Cardiomyopathy Astrocytosis Peripheral neuropathy Delayed speech and language development Abnormal facial shape Motor delay Dystonia Cryptorchidism Short stature Microcephaly Strabismus Dysphagia Cataract Amyotrophic lateral sclerosis Mandibular prognathia Paralysis Falls Sensory axonal neuropathy Hypotension Bradykinesia Gastrointestinal stroma tumor Intellectual disability Scoliosis Hypertelorism Pain Dysmetria Kyphoscoliosis Macrocephaly Abnormality of the skeletal system Respiratory insufficiency Hydrocephalus Sparse hair Spina bifida Visual loss Glaucoma Babinski sign Leiomyosarcoma Frontotemporal dementia Paresthesia Carcinoma Abnormal pyramidal sign Irritability Malabsorption Brain neoplasm Mental deterioration Neoplasm of the endocrine system Gastrointestinal hemorrhage Hallucinations Dyskinesia Parkinsonism Personality changes Visual impairment Breast carcinoma Involuntary movements Basal cell carcinoma Myoclonus Auditory hallucinations Abdominal pain Apathy Renal phosphate wasting Carious teeth Hypotrichosis Papule Coloboma Nasolacrimal duct obstruction Schwannoma Lisch nodules Facial palsy Cleft lip Chronic myelogenous leukemia Optic nerve glioma Arachnodactyly Abnormality of the ribs Hypogonadotrophic hypogonadism Muscle stiffness Short ribs Bradycardia Hyperpigmentation of the skin Exotropia Hemiparesis Cerebral calcification Cleft upper lip Carcinoid tumor Nevus Palmoplantar keratoderma Postaxial polydactyly Rhabdomyosarcoma Iris coloboma Oral cleft Neoplasm of the central nervous system Telecanthus Epigastric pain Fibular bowing Micrognathia Neuroma Wide nasal bridge Brachydactyly Epicanthus Spina bifida occulta Spasticity Cleft palate Brow ptosis Vestibular Schwannoma Tibial pseudoarthrosis Cerebral artery stenosis Arterial fibromuscular dysplasia Spinal neurofibromas Inguinal freckling Plexiform neurofibroma Neurofibrosarcoma Acute promyelocytic leukemia Downslanted palpebral fissures Embryonal rhabdomyosarcoma Proteinuria Brachycephaly EEG abnormality Coarse facial features Dural ectasia Retrognathia Subcutaneous neurofibromas Soft tissue sarcoma Proptosis Polydactyly Pectus excavatum Axillary freckling Pseudoarthrosis Microphthalmia Syndactyly Single ventricle Abnormality of the dentition Renal artery stenosis Frontal bossing Renovascular hypertension Hemivertebrae Hamartomatous polyposis Neoplasm of the skin Peripheral demyelination Neurodegeneration Aggressive behavior Encephalopathy Cerebral atrophy Gait instability, worse in the dark Distal sensory impairment of all modalities Distal sensory loss of all modalities Positive Romberg sign Sensory ataxia Distal sensory impairment Stereotypy Hyporeflexia Areflexia Congestive heart failure Axonal loss Athetosis Drooling Pallor Axial dystonia Asthma Urinary incontinence Mutism Hamartomatous stomach polyps Resting tremor Inappropriate behavior Vertical supranuclear gaze palsy Weak voice Central hypoventilation Respiratory arrest Gait imbalance Lewy bodies Insomnia Hypoventilation Mask-like facies Impulsivity Postural instability Sleep disturbance Abnormality of eye movement Respiratory failure Abnormality of metabolism/homeostasis Violent behavior Hyperorality Paranoia Delusions Bowel incontinence Chorea Irregular ossification of hand bones Relative macrocephaly Abnormality of the sternum Broad face Abnormality of the neck Short 4th metacarpal Skin tags Down-sloping shoulders Fragile nails Narrow nose Sprengel anomaly Thoracic scoliosis Colitis Medulloblastoma Vertebral fusion Agenesis of permanent teeth Long fingers Milia Disproportionate tall stature Inflammation of the large intestine Melanocytic nevus Nephritis Glomerulonephritis Ulcerative colitis Ectopic calcification Cardiac fibroma Orbital cyst Bridged sella turcica Plantar pits Ovarian fibroma Odontogenic keratocysts of the jaw Cardiac rhabdomyoma Bifid ribs Curved fingers Histiocytoma Calcification of falx cerebri Palmar pits Supernumerary ribs Short distal phalanx of the thumb Severe hydrocephalus Multiple impacted teeth Ovarian carcinoma Parietal bossing Vertebral wedging Abnormality of the sense of smell Fibroma Night sweats Cervical ribs Paraganglioma Mitral valve prolapse Anomalous pulmonary venous return Hernia Micropenis Diabetes mellitus Hypogonadism Severe short stature Pes cavus Inguinal hernia Clinodactyly Obesity Thrombocytopenia High forehead Midface retrusion Recurrent infections Immunodeficiency Long philtrum Hypoplasia of the corpus callosum Ventriculomegaly Intrauterine growth retardation Sensorineural hearing impairment Nystagmus Hypothyroidism Deeply set eye Global developmental delay Triangular face Sloping forehead Pigmentary retinopathy Limb undergrowth Decreased testicular size Convex nasal ridge Renal agenesis Progressive cerebellar ataxia Broad nasal tip Polyneuropathy Postnatal growth retardation Sensory neuropathy Long face Synophrys Hypermetropia Dilated cardiomyopathy Small for gestational age Prominent nasal bridge Short philtrum Retinopathy Growth delay Urinary tract neoplasm Apraxia Fingerprint intracellular accumulation of autofluorescent lipopigment storage material Developmental regression Constipation Hypertonia Fatigue Flexion contracture Muscular hypotonia Granular osmiophilic deposits (GROD) in cells Rectilinear intracellular accumulation of autofluorescent lipopigment storage material Curvilinear intracellular accumulation of autofluorescent lipopigment storage material Nausea and vomiting Stooped posture Increased neuronal autofluorescent lipopigment Tics Visual hallucinations Retinal degeneration Poor speech Generalized tonic-clonic seizures Gait ataxia Cerebral cortical atrophy Neurological speech impairment Migraine Cardiac diverticulum Dysgraphia Neoplasm of the rectum Abnormality of creatine metabolism Neoplasm of the skeletal system Benign neoplasm of the central nervous system Neoplasm of the thyroid gland Agnosia Glioblastoma multiforme Pancreatic adenocarcinoma Amaurosis fugax Prostate cancer Increased intracranial pressure Intestinal polyposis Pituitary adenoma Neoplasm of the pancreas Hepatocellular carcinoma Ovarian neoplasm Neuroblastoma Colon cancer Visual field defect Hemiplegia/hemiparesis Hypotelorism Epidermal acanthosis Complete atrioventricular canal defect Abnormality of the cardiovascular system Venous thrombosis Atherosclerosis Sensorimotor neuropathy Bone pain Cafe-au-lait spot Aganglionic megacolon Hypsarrhythmia Coarctation of aorta Tetralogy of Fallot Incoordination Overgrowth Specific learning disability Lymphoma Recurrent fractures Abnormality of skin pigmentation Peripheral axonal neuropathy Facial asymmetry Genu valgum Pulmonic stenosis Reduced bone mineral density Sarcoma Leukemia Severe vision loss Pheochromocytoma Parathyroid adenoma Aqueductal stenosis Myocardial fibrosis Meningioma Gangrene Increased reactive oxygen species production Overweight Renal cell carcinoma Back pain Osteomalacia Multiple cafe-au-lait spots Freckling Tibial bowing Neurofibromas Pulmonary fibrosis Hypophosphatemia Clitoral hypertrophy Precocious puberty Pruritus Autistic behavior Renal hypoplasia Goiter Cortical gyral simplification Ectopic kidney High pitched voice Bilateral cryptorchidism Unilateral renal agenesis Postural tremor Dysdiadochokinesis Slurred speech Leukopenia Long nose Acanthosis nigricans Short chin Bone marrow hypocellularity Hypergonadotropic hypogonadism Lymphopenia Insulin resistance Abnormal lung morphology Broad-based gait Cutaneous photosensitivity Truncal obesity Cerebellar vermis atrophy Hypertrophic cardiomyopathy Intellectual disability, mild Hypoglycemia Osteopenia Autism Hyperactivity Osteoporosis Abnormal heart morphology Abnormality of cardiovascular system morphology Dilatation Headache Blindness Abnormality of lipid metabolism Hypertension Ptosis Long neck Multinodular goiter Chronic lung disease Shuffling gait Misalignment of teeth Low hanging columella Increased circulating gonadotropin level Short stepped shuffling gait


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