Ptosis, and Tetraparesis

Diseases related with Ptosis and Tetraparesis

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


Top matches:

High match BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE


Thiamine metabolism dysfunction syndrome-2 is an autosomal recessive metabolic disorder characterized by episodic encephalopathy, often triggered by febrile illness, presenting as confusion, seizures, external ophthalmoplegia, dysphagia, and sometimes coma and death. Administration of high doses of biotin, and sometimes thiamine, during these crises results in partial or complete improvement within days. If untreated, encephalopathies can result in permanent dystonia. Brain imaging may show characteristic bilateral lesions of the basal ganglia. It is not known why biotin administration results in clinical improvement, as the molecular basis of the disorder is mutation in a gene encoding a thiamine transporter. However, biotin may increase the gene expression of SLC19A3 (summary by Debs et al., 2010).For a discussion of genetic heterogeneity of disorders due to thiamine metabolism dysfunction, see THMD1 (OMIM ).

BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE Is also known as btbgd|basal ganglia disease, biotin-responsive|biotin-responsive basal ganglia disease|bbgd|encephalopathy, thiamine-responsive

Related symptoms:

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


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about BIOTIN-THIAMINE-RESPONSIVE BASAL GANGLIA DISEASE

High match SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY


Peroxisomal fatty acyl-CoA reductase-1 disorder is an autosomal recessive disorder characterized by onset in infancy of severely delayed psychomotor development, growth retardation with microcephaly, and seizures. Some patients may have congenital cataracts and develop spasticity later in childhood. Biochemical studies tend to show decreased plasmalogen, consistent with a peroxisomal defect. The disorder is reminiscent of rhizomelic chondrodysplasia punctata (see, e.g., RCDP1, {215100}), although the characteristic skeletal abnormalities observed in RCDP are absent (Buchert et al., 2014).

SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY Is also known as severe intellectual disability-epilepsy-cataract syndrome due to peroxisomal disorder|severe intellectual disability-epilepsy-cataract syndrome due to far1 deficiency

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-EPILEPSY-CATARACT SYNDROME DUE TO FATTY ACYL-COA REDUCTASE 1 DEFICIENCY

High match COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24


Combined oxidative phosphorylation defect type 24 is a rare mitochondrial oxidative phosphorylation disorder characterized by variable phenotype, including developmental delay with psychomotor regression, intellectual disability, epilepsy, Leigh syndrome, non-syndromic hearing loss, visual impairment and severe myopathy. Decreased activity of mitochondrial respiratory complexes and lactic acidosis are common findings, and diffuse cerebral atrophy may be associated.

COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24 Is also known as coxpd24

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFECT TYPE 24

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High match LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME


Leukoencephalopathy-thalamus and brainstem anomalies-high lactate (LTBL) syndrome is a rare, genetic neurological disorder defined by early-onset of neurologic symptoms, biphasic clinical course, unique MRI features (incl. extensive, symmetrical, deep white matter abnormalities), and increased lactate in body fluids. The severe form is characterized by delayed psychomotor development, seizures, early-onset hypotonia, and persistently increased lactate levels. The mild form usually presents with irritability, psychomotor regression after six months of age, and temporary high lactate levels, with overall clinical improvement from the second year onward.

LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME Is also known as coxpd12|combined oxidative phosphorylation defect type 12|ltbl|leukoencephalopathy with thalamus and brainstem involvement and high lactate

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive
  • Cleft palate


SOURCES: ORPHANET OMIM MENDELIAN

More info about LEUKOENCEPHALOPATHY-THALAMUS AND BRAINSTEM ANOMALIES-HIGH LACTATE SYNDROME

High match FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE


Frontotemporal dementia with motor neuron disease (FTD-MND) is a type of frontotemporal lobar degeneration characterized by the insidious onset (between the ages of 38-78 years) of dementia-associated psychiatric symptoms (e.g. personality changes, uninhibited behavior, irritability, aggressiveness), memory difficulties, global intellectual impairment, emotional disorders and transcortical motor aphasia that eventually leads to mutism, in addition to the manifestations of motor neuron disease such as neurogenic muscular wasting (similar to what is seen in amyotrophic lateral sclerosis; see this term). The disease is progressive, with death occurring 2-5 years after onset.

FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE Is also known as frontotemporal dementia and/or amyotrophic lateral sclerosis|frontotemporal dementia with amyotrophic lateral sclerosis|ftd-mnd|ftdmnd|ftd-als|amyotrophic lateral sclerosis and/or frontotemporal dementia|alsftd|frontotemporal dementia and/or motor neuron

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Ptosis
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM ORPHANET MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA WITH MOTOR NEURON DISEASE

High match MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME


Microcephaly-capillary malformation syndrome is a rare, genetic vascular anomaly characterized by severe congenital microcephaly, poor somatic growth, diffuse multiple capillary malformations on the skin, intractable epilepsy, profound global developmental delay, spastic quadriparesis and hypoplastic distal phalanges.

MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME Is also known as mic-cap syndrome|microcephaly-cutaneous capillary malformation syndrome|mic-cm syndrome

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about MICROCEPHALY-CAPILLARY MALFORMATION SYNDROME

High match WARBURG MICRO SYNDROME 1; WARBM1


Warburg Micro syndrome is a rare autosomal recessive syndrome characterized by microcephaly, microphthalmia, microcornea, congenital cataracts, optic atrophy, cortical dysplasia, in particular corpus callosum hypoplasia, severe mental retardation, spastic diplegia, and hypogonadism (summary by Morris-Rosendahl et al., 2010). Genetic Heterogeneity of Warburg Micro SyndromeWarburg Micro syndrome-2 (WARBM2 ) is caused by mutation in the RAB3GAP2 gene (OMIM ) on chromosome 1q41. WARBM3 (OMIM ) is caused by mutation in the RAB18 gene (OMIM ) on chromosome 10p12. WARBM4 (OMIM ) is caused by mutation in the TBC1D20 gene (OMIM ) on chromosome 20p13.See also Martsolf syndrome (OMIM ), a clinically overlapping but milder autosomal recessive disorder caused by autosomal recessive mutation in the RAB3GAP2 gene.Handley et al. (2013) provided an overview of the disease variants identified in the RAB3GAP1, RAB3GAP2, and RAB18 genes, noting that a total of 144 families with WARBM and 9 families with Martsolf syndrome had been studied. Mutations were identified in RAB3GAP1 in 41% of cases, in RAB3GAP2 in 7% of cases, and in RAB18 in 5% of cases. Although RAB18 had not been linked to RAB3 pathways, Handley et al. (2013) stated that mutations in all 3 genes cause an indistinguishable phenotype, making it likely that there is some functional overlap.

WARBURG MICRO SYNDROME 1; WARBM1 Is also known as micro syndrome

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WARBURG MICRO SYNDROME 1; WARBM1

High match MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2


Mucopolysaccharidosis II is a rare X-linked recessive disorder caused by deficiency of the lysosomal enzyme iduronate sulfatase, leading to progressive accumulation of glycosaminoglucans in nearly all cell types, tissues, and organs. Patients with MPS II excrete excessive amounts of chondroitin sulfate B (dermatan sulfate) and heparitin sulfate (heparan sulfate) in the urine (McKusick, 1972; Wraith et al., 2008).

MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2 Is also known as hunter syndrome|sulfoiduronate sulfatase deficiency|sids deficiency|mps ii|ids deficiency|iduronate 2-sulfatase deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUCOPOLYSACCHARIDOSIS, TYPE II; MPS2

High match OCULODENTODIGITAL DYSPLASIA


Oculodentodigital dysplasia (ODDD) is characterized by craniofacial, neurologic, limb and ocular abnormalities.

OCULODENTODIGITAL DYSPLASIA Is also known as meyer-schwickerath syndrome|odd syndrome|oculodentoosseous dysplasia|odod|oddd syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about OCULODENTODIGITAL DYSPLASIA

Medium match GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS


Guillain-Barre syndrome (GBS) is an acute inflammatory demyelinating polyneuropathy characterized most commonly by symmetric limb weakness and loss of tendon reflexes. It is a putative autoimmune disorder presenting after an infectious illness, most commonly Campylobacter jejuni, a gram-negative bacterium that causes acute enteritis (Yuki and Tsujino, 1995; Koga et al., 2005). Approximately 1 in 1,000 individuals develops GBS after C. jejuni infection (Nachamkin, 2001).Although rare familial cases have been reported, GBS is considered to be a complex multifactorial disorder with both genetic and environmental factors rather than a disorder following simple mendelian inheritance (Geleijns et al., 2004).

GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS Is also known as polyneuropathy, inflammatory demyelinating, acute|aidp

Related symptoms:

  • Ataxia
  • Ptosis
  • Peripheral neuropathy
  • Dysarthria
  • Dysphagia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GUILLAIN-BARRE SYNDROME, FAMILIAL; GBS

Top 5 symptoms//phenotypes associated to Ptosis and Tetraparesis

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Spastic tetraparesis Common - Between 50% and 80% cases
Intellectual disability Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ptosis and Tetraparesis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Spasticity

Uncommon Symptoms - Between 30% and 50% cases


Microcephaly Cerebral atrophy Dysarthria Neurodegeneration Optic atrophy Visual impairment Ataxia Muscle weakness Epicanthus Hypoplasia of the corpus callosum Micrognathia Neonatal hypotonia Brain atrophy Hearing impairment Cognitive impairment Abnormality of the cerebral white matter Short nose Abnormal facial shape Cerebellar atrophy Cleft palate Failure to thrive Short stature Flexion contracture Hypertelorism Cataract Paraparesis Respiratory failure Ophthalmoplegia Dystonia Muscular hypotonia of the trunk Dysphagia Tetraplegia Hyperreflexia Nystagmus

Rare Symptoms - Less than 30% cases


Cerebral cortical atrophy Acidosis Agenesis of corpus callosum Proximal muscle weakness Microcornea Gliosis Increased serum lactate Blindness Neuronal loss in central nervous system Hypertrichosis Short palpebral fissure Cerebral visual impairment Umbilical hernia Brachydactyly Corneal opacity Severe global developmental delay Ventricular septal defect Anteverted nares Clinodactyly Bulbar palsy Limb muscle weakness Myoclonus Bradykinesia Delayed myelination Wide nasal bridge Hepatomegaly Severe short stature Upslanted palpebral fissure Ragged-red muscle fibers Glaucoma Deeply set eye Progressive microcephaly Intellectual disability, severe Microphthalmia Skeletal muscle atrophy Abnormality of the skeletal system Bilateral ptosis Abnormality of the nervous system Rigidity Generalized-onset seizure Babinski sign Intellectual disability, mild Hypertonia Mutism Facial palsy Feeding difficulties Growth delay Irritability Long philtrum Coarse facial features Muscular hypotonia Thin upper lip vermilion Macrotia Progressive neurologic deterioration Congenital cataract Dermatan sulfate excretion in urine Gait disturbance Myopia Spastic paraplegia Strabismus Cervical cord compression Retinoschisis Tracheobronchomalacia Edema Hypotrichosis Carious teeth Urinary glycosaminoglycan excretion Heparan sulfate excretion in urine Retinal fold Atrial septal defect Finger syndactyly Hip dislocation Hypoglycemia Blepharophimosis Sparse hair Abnormality of the pinna Abnormality of the eye Camptodactyly Conductive hearing impairment High forehead Abnormality of the dentition Mandibular prognathia Camptodactyly of finger Clinodactyly of the 5th finger Arrhythmia Visual loss Abnormality of cardiovascular system morphology Syndactyly Polydactyly Scaphocephaly Intestinal pseudo-obstruction Retinopathy Pigmentary retinopathy Asthma Macroglossia Postural instability Delayed eruption of teeth Dolichocephaly Attention deficit hyperactivity disorder Apnea Intellectual disability, profound Hepatosplenomegaly Fever Osteopenia Rod-cone dystrophy Pes cavus Inguinal hernia Kyphosis Spastic tetraplegia Thick lower lip vermilion Myelopathy Corneal dystrophy Dysostosis multiplex Obstructive sleep apnea Papilledema Abnormal heart valve morphology Mild short stature Incoordination Sleep apnea Widely spaced teeth Recurrent otitis media Aortic regurgitation Intellectual disability, progressive Exercise intolerance Elbow flexion contracture Hoarse voice Abnormality of retinal pigmentation Split hand Toe syndactyly Underdeveloped nasal alae Paraplegia Dry hair Abnormal diaphysis morphology Premature loss of primary teeth Pseudohypoparathyroidism Selective tooth agenesis Broad columella Trichorrhexis nodosa Short middle phalanx of the 5th finger Slow-growing hair Progressive spastic paraparesis Neurogenic bladder Abnormality of the nose Abnormal cortical bone morphology Short hallux Mild global developmental delay Retinal dysplasia Low hanging columella Fragile nails Narrow nasal ridge Broad alveolar ridges Abnormality of the clavicle Vertebral hyperostosis Ophthalmoparesis Esotropia Sensory impairment Polyneuropathy Autoimmunity Areflexia Peripheral neuropathy Thin anteverted nares 4-5 finger syndactyly Madelung deformity Abnormality iris morphology Tooth abscess 3-4 toe syndactyly Hyperintensity of cerebral white matter on MRI Optic nerve dysplasia Aplasia/Hypoplasia of the middle phalanges of the hand Joint contracture of the 5th finger Cranial hyperostosis Taurodontia Hypoparathyroidism Paresthesia Abnormal form of the vertebral bodies Abnormality of dental enamel Spastic paraparesis Abnormality of the nail Lymphedema Dental crowding Hypoplasia of dental enamel Abnormality of the metaphysis Fine hair Abnormality of vision Hypotelorism Cerebral calcification Overgrowth Microdontia Congestive heart failure Palmoplantar keratoderma Flat face Cleft upper lip Abnormality of the fingernails Reduced number of teeth Narrow nose Narrow nasal bridge Median cleft lip External ear malformation Premature loss of teeth Hyperactive deep tendon reflexes Curly hair Basal ganglia calcification Metaphyseal dysplasia High hypermetropia Progressive spasticity Preaxial polydactyly Abnormality of the ear Non-midline cleft lip Hyperostosis Preaxial hand polydactyly Aplasia/Hypoplasia of the cerebellum Cubitus valgus Hand polydactyly Brittle hair Splenomegaly Anteverted ears Diarrhea Apraxia Emotional lability Impulsivity Personality changes Apathy Fasciculations Hallucinations Psychosis Bilateral sensorineural hearing impairment Amyotrophic lateral sclerosis Abnormality of extrapyramidal motor function Memory impairment Chorea Progressive cerebellar ataxia Parkinsonism Distal muscle weakness Focal impaired awareness seizure Alzheimer disease Global brain atrophy Hyporeflexia Olivopontocerebellar atrophy Abnormal mitochondrial morphology Motor neuron atrophy Dyscalculia Abnormal upper motor neuron morphology Perseveration Degeneration of the lateral corticospinal tracts Disinhibition Focal dystonia Generalized amyotrophy Supranuclear gaze palsy Visual hallucinations Abnormal lower motor neuron morphology Frontotemporal dementia Delusions Bipolar affective disorder Neurofibrillary tangles Dementia Depressivity Neuronal loss in the cerebral cortex CNS hypomyelination Acute encephalopathy Craniofacial dystonia Metabolic alkalosis Opisthotonus Mildly elevated creatine phosphokinase Focal segmental glomerulosclerosis Glomerulosclerosis Focal motor seizures Abnormality of the basal ganglia Metabolic acidosis Smooth philtrum Highly arched eyebrow Rhizomelia Elevated serum creatine phosphokinase Myopathy Progressive spastic quadriplegia Cogwheel rigidity Morphological abnormality of the pyramidal tract Behavioral abnormality Leukoencephalopathy Tremor Abnormality of mitochondrial metabolism Decreased activity of mitochondrial complex IV Decreased activity of mitochondrial complex III Dysplastic corpus callosum Decreased activity of mitochondrial complex I Macrovesicular hepatic steatosis Muscle stiffness Absent speech Cholestasis Atrophy/Degeneration affecting the brainstem Hepatic steatosis Lactic acidosis Loss of speech Developmental regression Elevated hepatic transaminase Hypospadias Extrapyramidal dyskinesia Weakness due to upper motor neuron dysfunction Cardiomyopathy Arthrogryposis multiplex congenita Postnatal microcephaly Pachygyria Respiratory insufficiency Convex nasal ridge Encephalopathy Polymicrogyria Joint hypermobility Coloboma Cerebral palsy Gait ataxia Retrognathia Kyphoscoliosis Narrow mouth Micropenis Brachycephaly Hypogonadism Progressive muscle weakness Hyperextensible skin Posteriorly rotated ears Hyperglycinuria Hydrocephalus Short neck Macrocephaly Microphakia Facial hypertrichosis Posterior synechiae of the anterior chamber Posterior uveitis Abnormal pupil morphology Bilateral cryptorchidism Retinal coloboma Enlarged cisterna magna External genital hypoplasia Cortical dysplasia Neurodevelopmental delay Spastic diplegia Overlapping toe Osteoporosis Cerebellar hypoplasia External ophthalmoplegia Aggressive behavior Downturned corners of mouth Wide nose Short distal phalanx of finger Poor speech Abnormal pyramidal sign Small for gestational age Intellectual disability, moderate Confusion Paralysis Inability to walk Coma Intrauterine growth retardation Focal-onset seizure Status epilepticus Delayed speech and language development Low-set ears Hypoplasia of the maxilla Vesicoureteral reflux Ventriculomegaly Short 5th finger Motor delay High palate Cryptorchidism Abnormal hair whorl Hemiclonic seizures Capillary malformation Right ventricular hypertrophy Central hypotonia Sloping forehead Long palpebral fissure Cortical gyral simplification Patent foramen ovale Short toe Wide anterior fontanel Small nail Ventricular hypertrophy Oligohydramnios Acute demyelinating polyneuropathy



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