Dysarthria, and Hypothyroidism

Diseases related with Dysarthria and Hypothyroidism

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

Top matches:

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about POLYENDOCRINE-POLYNEUROPATHY SYNDROME

Brain-lung-thyroid syndrome is a rare disorder characterized by congenital hypothyroidism (CH), infant respiratory distress syndrome (IRDS) and benign hereditary chorea (BHC; see these terms).

BRAIN-LUNG-THYROID SYNDROME Is also known as choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome|brain-lung-thyroid syndrome

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Muscular hypotonia
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about BRAIN-LUNG-THYROID SYNDROME

Medium match ACERULOPLASMINEMIA

Aceruloplasminemia is an adult-onset disorder of neurodegeneration with brain iron accumulation (NBIA; see this term) characterized by anemia, retinal degeneration, diabetes and various neurological symptoms.

ACERULOPLASMINEMIA Is also known as hereditary ceruloplasmin deficiency

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about ACERULOPLASMINEMIA

Other less relevant matches:

Fragile X-associated tremor/ataxia syndrome (FXTAS) is a rare neurodegenerative disorder characterized by adult-onset progressive intention tremor and gait ataxia.

FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME Is also known as fxtas syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about FRAGILE X-ASSOCIATED TREMOR/ATAXIA SYNDROME

Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome is a rare, genetic, neurodegenerative disease characterized by episodic metabolic encephalomyopathic crises (of variable frequency and severity which are frequently precipitated by an acute illness) which manifest with profound muscle weakness, ataxia, seizures, cardiac arrhythmias, rhabdomyolysis with myoglobinuria, elevated plasma creatine kinase, hypoglycemia, lactic acidosis, increased acylcarnitines and a disorientated or comatose state. Global developmental delay, intellectual disability and cortical, pyramidal and cerebellar signs develop with subsequent progressive neurodegeneration causing loss of expressive language and varying degrees of cerebral atrophy.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about RECURRENT METABOLIC ENCEPHALOMYOPATHIC CRISES-RHABDOMYOLYSIS-CARDIAC ARRHYTHMIA-INTELLECTUAL DISABILITY SYNDROME

Autosomal recessive cerebellar ataxia due to STUB1 deficiency is a rare hereditary ataxia characterized by progressive truncal and limb ataxia resulting in gait instability. Dysarthria, dysphagia, nystagmus, spasticity of the lower limbs, mild peripheral sensory neuropathy, cognitive impairment and accelerated ageing have also been associated.

AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY Is also known as scar16|spinocerebellar ataxia autosomal recessive type 16

Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE CEREBELLAR ATAXIA DUE TO STUB1 DEFICIENCY

Progressive external ophthalmoplegia is characterized by multiple mitochondrial DNA deletions in skeletal muscle. The most common clinical features include adult onset of weakness of the external eye muscles and exercise intolerance. Patients with C10ORF2-linked adPEO may have other clinical features including proximal muscle weakness, ataxia, peripheral neuropathy, cardiomyopathy, cataracts, depression, and endocrine abnormalities (summary by Fratter et al., 2010).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant progressive external ophthalmoplegia, see PEOA1 (OMIM ).PEO caused by mutations in the POLG gene (OMIM ) are associated with more complicated phenotypes than those forms caused by mutations in the SLC25A4 (OMIM ) or C10ORF2 genes (Lamantea et al., 2002).

PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3 Is also known as progressive external ophthalmoplegia, autosomal dominant 3

Related symptoms:

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


SOURCES: MESH OMIM MENDELIAN

More info about PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 3; PEOA3

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Hearing impairment
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about MICROCEPHALY, SHORT STATURE, AND IMPAIRED GLUCOSE METABOLISM 2; MSSGM2

17p11.2 microduplication syndrome is a rare chromosomal anomaly syndrome, resulting from the partial duplication of the short arm of chromosome 17, typically characterized by hypotonia, poor feeding, failure to thrive, developmental delay (particularly cognitive and language deficits), mild-moderate intellectual deficit, and neuropsychiatric disorders (behavioral problems, anxiety, attention deficit hyperactivity disorder, autistic spectrum disorder, bipolar disorder). Structural cardiovascular anomalies (dilated aortic root, bicommissural aortic valve, atrial/ventricular and septal defects) and sleep disturbance (obstructive and central sleep apnea) are also frequently associated.

17P11.2 MICRODUPLICATION SYNDROME Is also known as potocki-lupski syndrome|trisomy 17p11.2|chromosome 17p11.2 duplication syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about 17P11.2 MICRODUPLICATION SYNDROME

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

Top 5 symptoms//phenotypes associated to Dysarthria and Hypothyroidism

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Gait ataxia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Cognitive impairment

Uncommon Symptoms - Between 30% and 50% cases

Seizures Gait disturbance Tremor Type I diabetes mellitus Dystonia Diabetes mellitus Generalized hypotonia Short stature Dysphagia Microcephaly Spasticity Muscle weakness Memory impairment Rigidity Depressivity Fatigue Nystagmus Dementia Hyporeflexia Abnormal facial shape Bipolar affective disorder Sensorineural hearing impairment Abnormality of the thyroid gland Parkinsonism Increased serum lactate Hyperactive deep tendon reflexes Peripheral neuropathy Abnormality of movement Hyperreflexia Hypoplasia of the corpus callosum Muscular hypotonia Skeletal muscle atrophy Hypogonadism Motor delay Difficulty walking

Rare Symptoms - Less than 30% cases

Apathy Speech apraxia Epicanthus Abnormal cerebellum morphology Horizontal nystagmus Limb ataxia Postural tremor Bradykinesia Urinary incontinence Brain atrophy Progressive cerebellar ataxia Dysmetria Postural instability Resting tremor Irritability Anxiety Myalgia Proximal muscle weakness Autism Cerebral cortical atrophy Micrognathia Ptosis Severe global developmental delay Cerebellar atrophy Generalized muscle weakness Bowel incontinence Intellectual disability, severe Downslanted palpebral fissures Absent speech Babinski sign Myopathic facies Ventricular fibrillation Oral-pharyngeal dysphagia Drooling Feeding difficulties Clonus Spastic tetraplegia Ophthalmoplegia Sensory neuropathy Arrhythmia Truncal ataxia Cerebral atrophy Scoliosis Cardiomyopathy Delayed myelination External ophthalmoplegia Sensory axonal neuropathy Neonatal hypotonia Feeding difficulties in infancy Small for gestational age Poor fine motor coordination Saccadic smooth pursuit Kinetic tremor Macrotia Pectus excavatum Elevated serum creatine phosphokinase Premature ovarian insufficiency Infantile muscular hypotonia Hypoglycemia Pain Hyperkinesis Athetosis Apnea Increased thyroid-stimulating hormone level Delayed speech and language development Hypertonia Respiratory distress Respiratory insufficiency Choreoathetosis Confusion Progressive hearing impairment Neurodegeneration Involuntary movements Chorea Cerebellar hypoplasia Polyuria Growth delay High pitched voice Abnormal vertebral morphology Dysphonia Oligodontia Polydipsia Biparietal narrowing Generalized amyotrophy Hypoplasia of the brainstem Hyperglycemia Brisk reflexes Aphasia Mutism Hallux valgus Ketoacidosis Renal hypoplasia EMG: myopathic abnormalities Down-sloping shoulders Maternal diabetes Prominent superficial veins Recurrent hypoglycemia Increased vertebral height CNS hypomyelination Hypertelorism Poor head control Ragged-red muscle fibers Exercise intolerance Failure to thrive Strabismus Intellectual disability, progressive Fine hair Blue sclerae Central hypotonia Narrow mouth Cytochrome C oxidase-negative muscle fibers Multiple mitochondrial DNA deletions Subsarcolemmal accumulations of abnormally shaped mitochondria Limb-girdle muscle weakness Stahl ear Cryptorchidism Abnormal conjugate eye movement Prominent antihelix Intrauterine growth retardation Rotary nystagmus Hypoplasia of the musculature Mitochondrial myopathy Progressive external ophthalmoplegia Delayed skeletal maturation Delayed CNS myelination Sensory ataxia Kyphoscoliosis Hyperlordosis Sparse hair Insomnia Abnormality of the neck Delayed puberty Downturned corners of mouth Full cheeks Hypoplasia of the zygomatic bone Coronary artery atherosclerosis Round face Ophthalmoparesis Hypotelorism Bilateral ptosis Macroorchidism Abnormality of the pharynx Cleft palate Diplopia Dysphasia Camptodactyly of finger Open bite Abnormality of dental morphology Language impairment Trigonocephaly Failure to thrive in infancy High hypermetropia Spastic paraplegia Patent foramen ovale Sleep apnea Hypercholesterolemia Stereotypy Abnormality of the foot Joint stiffness Protruding ear Paraplegia Hypocholesterolemia Prominent nasal tip Expressive language delay Central sleep apnea Receptive language delay Flexion contracture Malar flattening Abnormal renal morphology Abnormality of the pinna Upslanted palpebral fissure Abnormality of chromosome segregation Echolalia Proptosis Poor eye contact Pes planus Abnormality of the nervous system Dental crowding Abnormality of the cardiovascular system Muscle stiffness Intellectual disability, mild Interphalangeal joint contracture of finger Open mouth Hyperactivity Leukodystrophy Abnormal heart morphology Abnormality of cardiovascular system morphology Abnormality of the dentition Narrow forehead Frontal bossing Myopia Wide nasal bridge Narrow face Bilateral single transverse palmar creases High palate Mandibular prognathia Cerebral calcification Dental malocclusion Inability to walk Bifid uvula Triangular face Hypoplasia of the maxilla Smooth philtrum Long face Hypermetropia Broad forehead Gastroesophageal reflux Attention deficit hyperactivity disorder Wide mouth Autistic behavior Abnormality of the kidney Low-set, posteriorly rotated ears Tetraplegia EEG abnormality Bradycardia Neurological speech impairment Progressive muscle weakness Aggressive behavior Intention tremor Hypotension Distal sensory impairment Abnormality of the cerebral white matter Stroke Mental deterioration Hypertension Paraparesis Aceruloplasminemia Decreased serum iron Elevated hepatic iron concentration Decreased serum ceruloplasmin Refractory anemia Scanning speech Cogwheel rigidity Abnormal autonomic nervous system physiology Spastic paraparesis Increased serum ferritin Diffuse cerebral atrophy Abnormality of brainstem morphology Pollakisuria Dysesthesia Disinhibition Astrocytosis Olivopontocerebellar atrophy Action tremor Dysdiadochokinesis Urinary bladder sphincter dysfunction Atrophy/Degeneration affecting the brainstem Global brain atrophy Agitation Impotence Mask-like facies Obsessive-compulsive behavior Blepharospasm Muscle fibrillation Impaired distal vibration sensation Ventricular septal defect Abnormal cardiac septum morphology Respiratory tract infection Respiratory failure Recurrent respiratory infections Pneumonia Atrial septal defect Fever Asthma Central hypothyroidism Glucose intolerance Polyneuropathy Abnormal pyramidal sign Postnatal growth retardation Intellectual disability, moderate Pes cavus Sleep disturbance Abnormal lung morphology Slurred speech Behavioral abnormality Cerebral palsy Torticollis Abnormality of extrapyramidal motor function Cirrhosis Retinal degeneration Poor speech Congestive heart failure Recurrent pneumonia Anemia Thyroid dysgenesis Compensated hypothyroidism Parkinsonism with favorable response to dopaminergic medication Congenital hypothyroidism Interstitial pulmonary abnormality Neonatal respiratory distress Abnormal nerve conduction velocity Diffuse cerebellar atrophy Left ventricular hypertrophy Progeroid facial appearance Delayed menarche Impaired proprioception Ulcerative colitis Corpus callosum atrophy Head tremor Hypoplasia of the pons Oligomenorrhea Abnormal involuntary eye movements Hand tremor Retinal atrophy Uveitis Colitis Ankle clonus Gaze-evoked nystagmus Adducted thumb Iridocyclitis Old-aged sensorineural hearing impairment Oculomotor apraxia Paresthesia Status epilepticus Ventricular hypertrophy Amenorrhea Migraine Gliosis Muscle cramps Lower limb muscle weakness Parietal cortical atrophy Limb muscle weakness Areflexia Myopathy Visual impairment Cataract Abnormal motor evoked potentials Abnormality of the sella turcica Pancreatitis Lower limb spasticity Obsessive-compulsive trait Hypertrophic cardiomyopathy Ventricular tachycardia Cardiac arrest Metabolic acidosis Nephropathy Tachycardia Lactic acidosis Elevated hepatic transaminase Spastic diplegia Acidosis Encephalopathy Optic atrophy Impaired tandem gait Subcortical dementia Inertia Retrocollis Hyperammonemia Rhabdomyolysis Type II diabetes mellitus Alopecia Distal amyotrophy Peripheral axonal neuropathy Unsteady gait Arachnodactyly Infertility Glaucoma Myoclonus Premature thelarche Myoglobinuria Elevated plasma acylcarnitine levels Premature pubarche Acute rhabdomyolysis Prolonged QTc interval Torsade de pointes Ketonuria Poor coordination Underfolded superior helices


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