Hyperreflexia, and Hypothyroidism

Diseases related with Hyperreflexia and Hypothyroidism

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

Top matches:

An Orphanet summary for this disease is currently under development. However, other data related to the disease are accessible from the Additional Information menu located on the right side of this page.

MITOCHONDRIAL DNA-RELATED PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA Is also known as maternally-inherited cpeo|mtdna-related progressive external ophthalmoplegia|maternally-inherited chronic progressive external ophthalmoplegia

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about MITOCHONDRIAL DNA-RELATED PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA

Autosomal dominant dopa-responsive dystonia (DYT5a) is a rare neurometabolic disorder characterized by childhood-onset dystonia that shows a dramatic and sustained response to low doses of levodopa (L-dopa) and that may be associated with parkinsonism at an older age.

AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA Is also known as hpd with marked diurnal fluctuation|gtpch1-deficient dopa-responsive dystonia|gtpch1-deficient drd|dyt5a|hereditary progressive dystonia with marked diurnal fluctuation|autosomal dominant segawa syndrome

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Hypertension


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT DOPA-RESPONSIVE DYSTONIA

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:

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

Aicardi-Goutières syndrome (AGS) is an inherited, subacute encephalopathy characterised by the association of basal ganglia calcification, leukodystrophy and cerebrospinal fluid (CSF) lymphocytosis.

AICARDI-GOUTIÈRES SYNDROME Is also known as encephalopathy with basal ganglia calcification|encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM ORPHANET MENDELIAN

More info about AICARDI-GOUTIÈRES 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

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

Neurodegeneration with brain iron accumulation-2A is an autosomal recessive neurodegenerative disease characterized by onset in the first 2 years of life; it is also referred to as infantile neuroaxonal dystrophy (INAD). Pathologic findings include axonal swelling and spheroid bodies in the central nervous system (review by Gregory et al., 2009).

NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A Is also known as inad|neurodegeneration, pla2g6-associated|neuroaxonal dystrophy, infantile|seitelberger disease|inad1|plan

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A; NBIA2A

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 Hyperreflexia and Hypothyroidism

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

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Ataxia Nystagmus Gait disturbance Dysarthria Babinski sign Tremor Dystonia Irritability Hyperactive deep tendon reflexes Postural tremor Microcephaly Rigidity Parkinsonism Horizontal nystagmus Generalized hypotonia Muscle weakness Flexion contracture Abnormal cerebellum morphology Hypoplasia of the corpus callosum Abnormality of movement Increased serum lactate Cerebral cortical atrophy Cerebellar atrophy Choreoathetosis Hypertonia Spastic tetraplegia Peripheral neuropathy Cognitive impairment Encephalopathy Fatigue Depressivity Obsessive-compulsive behavior Abnormality of extrapyramidal motor function Bradykinesia Scoliosis Anxiety Type I diabetes mellitus Hypertension Brisk reflexes

Rare Symptoms - Less than 30% cases

Sensorineural hearing impairment Muscular hypotonia Generalized muscle weakness Saccadic smooth pursuit Lower limb spasticity Tetraplegia Cerebral atrophy Kinetic tremor Bowel incontinence Limb ataxia Memory impairment Urinary incontinence Progressive cerebellar ataxia Postural instability Optic atrophy Macrotia Absent speech Corpus callosum atrophy Central hypotonia Abnormal facial shape Diabetes mellitus Unsteady gait Abnormality of the cerebral white matter Cerebral calcification Truncal ataxia Feeding difficulties in infancy Muscular hypotonia of the trunk Micrognathia Neurodegeneration Feeding difficulties Intellectual disability, severe Ptosis Growth delay Myopathic facies Drooling Clonus Pectus excavatum Leukodystrophy Dysmetria Delayed myelination Limb dystonia Difficulty walking Obsessive-compulsive trait Resting tremor Gaze-evoked nystagmus Spastic diplegia Pes cavus Involuntary movements Confusion Paraplegia Spastic paraplegia Abnormal pyramidal sign Sleep disturbance Hyperlordosis Motor delay Dysphagia Paresis of extensor muscles of the big toe Abnormality of the substantia nigra Transient hyperphenylalaninemia Decreased CSF homovanillic acid Torticollis Progressive flexion contractures Rheumatoid arthritis Lower limb hyperreflexia Focal dystonia Generalized dystonia Mental deterioration Impaired vibration sensation in the lower limbs Pain Talipes equinovarus Dementia Hyporeflexia Abnormality of the foot Polyuria Macroorchidism Hypotelorism Blue sclerae Renal hypoplasia Fine hair Abnormal vertebral morphology Oligodontia Polydipsia Hypoplasia of the zygomatic bone Hypoplasia of the brainstem Hyperglycemia High pitched voice Full cheeks Ketoacidosis Down-sloping shoulders Maternal diabetes Prominent superficial veins Biparietal narrowing Generalized amyotrophy Recurrent hypoglycemia Increased vertebral height Strabismus Aphasia Hallux valgus Athetosis Round face Downturned corners of mouth CNS hypomyelination Epicanthus Speech apraxia Delayed menarche Iridocyclitis Abnormal involuntary eye movements Old-aged sensorineural hearing impairment Parietal cortical atrophy Abnormality of the sella turcica Abnormal motor evoked potentials Short stature Stahl ear Abnormal conjugate eye movement Cryptorchidism Intrauterine growth retardation Delayed puberty Prominent antihelix Increased thyroid-stimulating hormone level Downslanted palpebral fissures Rotary nystagmus Hypoplasia of the musculature Delayed skeletal maturation Delayed CNS myelination Narrow mouth Abnormality of the neck Kyphoscoliosis Sparse hair Small for gestational age Visual impairment Poor head control Long face Narrow forehead Gangrene Lewy bodies Morphological abnormality of the pyramidal tract Urinary retention Degeneration of the lateral corticospinal tracts EMG: chronic denervation signs Spinal deformities Cerebellar cortical atrophy Autoamputation Autoamputation of digits Hypothalamic hypothyroidism Cerebellar gliosis Skeletal muscle atrophy Keratoconjunctivitis sicca Malar flattening Upslanted palpebral fissure Proptosis Pes planus Neonatal hypotonia Abnormality of the nervous system Abnormality of the pinna Protruding ear Joint stiffness Camptodactyly of finger Inability to walk Severe global developmental delay Abnormality of visual evoked potentials Diabetes insipidus Fever Impaired proprioception Intellectual disability, progressive Muscle stiffness Frontal bossing Short nose Abnormality of metabolism/homeostasis Visual loss Areflexia Constipation Prominent forehead Developmental regression Paralysis Bilateral single transverse palmar creases Generalized myoclonic seizures Epiphora Gliosis Neuronal loss in central nervous system Narrow face Tetraparesis Progressive neurologic deterioration Sensorimotor neuropathy Open mouth Severe muscular hypotonia Decreased nerve conduction velocity Interphalangeal joint contracture of finger Poor suck Keratitis Stroke Adducted thumb Ulcerative colitis Arrhythmia Impaired distal vibration sensation Diffuse cerebellar atrophy Retrocollis Inertia Subcortical dementia Impaired tandem gait Fixed facial expression Infantile encephalopathy Axial dystonia Cardiomyopathy Writer's cramp Oromandibular dystonia Elevated serum creatine phosphokinase Abnormality of brainstem morphology Acidosis Hypoglycemia Elevated hepatic transaminase Hypertrophic cardiomyopathy Lactic acidosis Tachycardia Nephropathy Parkinsonism with favorable response to dopaminergic medication Metabolic acidosis Torsion dystonia Upper motor neuron dysfunction Cardiac arrest Ventricular tachycardia Abnormal nerve conduction velocity Pollakisuria Oral-pharyngeal dysphagia Apathy Distal sensory impairment Aggressive behavior Myalgia Brain atrophy Proximal muscle weakness Hypotension Autism Intention tremor Abnormal autonomic nervous system physiology Paraparesis Spastic paraparesis Dysdiadochokinesis Premature ovarian insufficiency Mask-like facies Poor fine motor coordination Impotence Agitation Global brain atrophy Abnormality of the thyroid gland Atrophy/Degeneration affecting the brainstem Bipolar affective disorder Urinary bladder sphincter dysfunction Action tremor Diffuse cerebral atrophy Olivopontocerebellar atrophy Astrocytosis Disinhibition Dysesthesia Hyperammonemia Ventricular fibrillation Head tremor Distal amyotrophy Chilblains Deep white matter hypodensities Alopecia Cerebellar hypoplasia Myoclonus Hypogonadism Glaucoma Neurological speech impairment Ophthalmoplegia Infertility Arachnodactyly Peripheral axonal neuropathy Sensory neuropathy Arrhinencephaly Type II diabetes mellitus Oculomotor apraxia Pancreatitis External ophthalmoplegia Sensory axonal neuropathy Ankle clonus Colitis Uveitis Retinal atrophy Hand tremor Oligomenorrhea Progeroid facial appearance Hypoplasia of the pons CSF lymphocytic pleiocytosis Porencephalic cyst Rhabdomyolysis Thrombocytopenia Myoglobinuria Poor coordination Ketonuria Torsade de pointes Prolonged QTc interval Acute rhabdomyolysis Premature pubarche Elevated plasma acylcarnitine levels Premature thelarche Dysphonia Failure to thrive Cerebral palsy Anemia Skin rash Immune dysregulation Dry skin Intellectual disability, profound Behavioral abnormality Postnatal microcephaly Plagiocephaly Leukoencephalopathy Scaling skin Toe walking Hemiplegia/hemiparesis Basal ganglia calcification Arthropathy Thrombocytosis Eyelid coloboma Underfolded superior helices


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