Hyperreflexia, and Joint hypermobility

Diseases related with Hyperreflexia and Joint hypermobility

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

Top matches:

Autosomal recessive spastic paraplegia type 53 (SPG53) is a very rare, complex type of hereditary spastic paraplegia characterized by early-onset spastic paraplegia (with spasticity in the lower extremities that progresses to the upper extremities) associated with developmental and motor delay, mild to moderate cognitive and speech delay, skeletal dysmorphism (e.g. kyphosis and pectus), hypertrichosis and mildly impaired vibration sense. SPG53 is due to mutations in the VPS37A gene (8p22) encoding vacuolar protein sorting-associated protein 37A.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53 Is also known as spg53

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Microcephaly
  • Failure to thrive
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 53

Giant axonal neuropathy (GAN) is a severe, slowly progressive neurodegenerative disorder characterized by progressive motor and sensory peripheral neuropathy, central nervous system involvement (including pyramidal and cerebellar signs), and characteristic kinky hair in most cases.

GIANT AXONAL NEUROPATHY Is also known as gan

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GIANT AXONAL NEUROPATHY

NDHMSD is a severe neurodevelopmental disorder characterized by profound developmental delay, severe intellectual disability with absent speech, muscular hypotonia, and a hyperkinetic movement disorder. Additional features may include cortical blindness, generalized cerebral atrophy, and seizures (summary by Lemke et al., 2016).

NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD Is also known as mrd8, formerly|mental retardation, autosomal dominant 8, formerly

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about NEURODEVELOPMENTAL DISORDER WITH OR WITHOUT HYPERKINETIC MOVEMENTS AND SEIZURES, AUTOSOMAL DOMINANT; NDHMSD

Other less relevant matches:

Severe intellectual disability and progressive spastic paraplegia is a rare complex spastic paraplegia characterized by an early onset hypotonia that progresses to spasticity, global developmental delay, severe intellectual disability and speech impairment, microcephaly, short stature and dysmorphic features. Patients often become non-ambulatory, and some develop seizures and stereotypic laughter.

SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA Is also known as ap4 deficiency syndrome|cpsq4, formerly|cerebral palsy, spastic quadriplegic, 4, formerly

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY AND PROGRESSIVE SPASTIC PARAPLEGIA

Low match SLC39A8-CDG

Congenital disorder of glycosylation type IIn (CDG2N) is an autosomal recessive severe multisystem developmental disorder characterized by delayed psychomotor development apparent from infancy, hypotonia, and variable additional features, such as short stature, seizures, visual impairment, and cerebellar atrophy. Serum transferrin analysis shows a CDG type II pattern (summary by Boycott et al., 2015 and Park et al., 2015).For a discussion of genetic heterogeneity of CDG type II, see CDG2A (OMIM ).

SLC39A8-CDG Is also known as slc39a8 deficiency|cdg2n|congenital disorder of glycosylation type 2n|cdg iin|cdg syndrome type iin|carbohydrate deficient glycoprotein syndrome type iin|cdgiin|cdg-iin|congenital disorder of glycosylation type iin

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SLC39A8-CDG

JABELS is an autosomal recessive neurodevelopmental disorder characterized by developmental delay and intellectual disability with additional variable features. Patients have onset of symptoms in infancy, but the severity is highly variable. Some patients have social interaction and learn to walk but have an ataxic gait and abnormal movements, such as tremor or dystonia, whereas others do not achieve any motor control and are unable to speak. Additional features may include retinal anomalies, visual impairment, microcephaly, abnormal foot or hand posturing, and kyphoscoliosis; some patients have dysmorphic facial features or seizures. Brain imaging typically shows cerebellar atrophy and hypoplasia of the corpus callosum (summary by Jaberi et al., 2016 and Bertoli-Avella et al., 2018).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about JABERI-ELAHI SYNDROME; JABELS

Low match ACHONDROPLASIA

Achondroplasia is the most common form of chondrodysplasia, characterized by rhizomelia, exaggerated lumbar lordosis, brachydactyly, and macrocephaly with frontal bossing and midface hypoplasia.

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Muscular hypotonia
  • Depressed nasal bridge


SOURCES: ORPHANET OMIM MENDELIAN

More info about ACHONDROPLASIA

Christianson syndrome is a very rare form of syndromic intellectual deficit characterized by microcephaly, severe developmental delay or regression, hypotonia, abnormal movements, and early-onset seizures.

CHRISTIANSON SYNDROME Is also known as x-linked angelman-like syndrome|x-linked intellectual disability, south african type|mental retardation, microcephaly, epilepsy, and ataxia syndrome|x-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy synd

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHRISTIANSON SYNDROME

Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome is a rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by global developmental delay, axial hypotonia, palate abnormalities (including cleft palate and/or high and narrow palate), dysmorphic facial features (including prominent forehead, hypertelorism, downslanting palpebral fissures, wide nasal bridge, thin lips and widely spaced teeth), and short stature. Additional manifestations may include digital anomalies (such as brachydactyly, clinodactyly, and hypoplastic toenails), a single palmar crease, lower limb hypertonia, joint hypermobility, as well as ocular and urogenital anomalies.

PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME Is also known as palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome

Related symptoms:

  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hypertelorism


SOURCES: OMIM ORPHANET MENDELIAN

More info about PALATAL ANOMALIES-WIDELY SPACED TEETH-FACIAL DYSMORPHISM-DEVELOPMENTAL DELAY SYNDROME

Primary CoQ10 deficiency is a rare, clinically heterogeneous autosomal recessive disorder caused by mutation in any of the genes encoding proteins directly involved in the synthesis of coenzyme Q (review by Quinzii and Hirano, 2011). Coenzyme Q10 (CoQ10), or ubiquinone, is a mobile lipophilic electron carrier critical for electron transfer by the mitochondrial inner membrane respiratory chain (Duncan et al., 2009).The disorder has been associated with 5 major phenotypes, but the molecular basis has not been determined in most patients with the disorder and there are no clear genotype/phenotype correlations. The phenotypes include an encephalomyopathic form with seizures and ataxia (Ogasahara et al., 1989); a multisystem infantile form with encephalopathy, cardiomyopathy and renal failure (Rotig et al., 2000); a predominantly cerebellar form with ataxia and cerebellar atrophy (Lamperti et al., 2003); Leigh syndrome with growth retardation (van Maldergem et al., 2002); and an isolated myopathic form (Lalani et al., 2005). The correct diagnosis is important because some patients may show a favorable response to CoQ10 treatment. Genetic Heterogeneity of Primary Coenzyme Q10 DeficiencySee also COQ10D2 (OMIM ), caused by mutation in the PDSS1 gene (OMIM ) on chromosome 10p12; COQ10D3 (OMIM ), caused by mutation in the PDSS2 gene (OMIM ) on chromosome 6q21; COQ10D4 (OMIM ), caused by mutation in the COQ8 gene (ADCK3 ) on chromosome 1q42; COQ10D5 (OMIM ), caused by mutation in the COQ9 gene (OMIM ) on chromosome 16q21; COQ10D6 (OMIM ), caused by mutation in the COQ6 gene (OMIM ) on chromosome 14q24; COQ10D7 (OMIM ), caused by mutation in the COQ4 gene (OMIM ) on chromosome 9q34; and COQ10D8 (OMIM ), caused by mutation in the COQ7 gene (OMIM ) on chromosome 16p13.Secondary CoQ10 deficiency has been reported in association with glutaric aciduria type IIC (MADD ), caused by mutation in the ETFDH gene (OMIM ) on chromosome 4q, and with ataxia-oculomotor apraxia syndrome-1 (AOA1 ), caused by mutation in the APTX gene (OMIM ) on chromosome 9p13.

COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1 Is also known as ubiquinone deficiency 1|coq10 deficiency, primary, 1|coq deficiency 1|coenzyme q deficiency 1

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about COENZYME Q10 DEFICIENCY, PRIMARY, 1; COQ10D1

Top 5 symptoms//phenotypes associated to Hyperreflexia and Joint hypermobility

Symptoms // Phenotype % cases
Global developmental delay Very Common - Between 80% and 100% cases
Seizures Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Spasticity

Uncommon Symptoms - Between 30% and 50% cases

Ventriculomegaly Microcephaly Delayed speech and language development Nystagmus Short stature Failure to thrive Clonus Strabismus Scoliosis Joint hyperflexibility Abnormal facial shape Ataxia Absent speech Dystonia Hypoplasia of the corpus callosum Motor delay Talipes equinovarus Visual impairment Flexion contracture Abnormal pyramidal sign Poor speech Cerebral cortical atrophy Macrocephaly Inability to walk Gait ataxia Encephalopathy Cerebral atrophy Intellectual disability, severe Generalized-onset seizure Muscular hypotonia Skeletal muscle atrophy Hypertonia Paraplegia Spastic paraplegia Difficulty walking Kyphosis Dysarthria Hearing impairment

Rare Symptoms - Less than 30% cases

Narrow chest Hypsarrhythmia Spastic tetraplegia Anteverted nares Epileptic encephalopathy Pain Thick eyebrow Abnormality of eye movement Deeply set eye Abnormality of the eye Autism High palate Status epilepticus Constipation Growth delay Feeding difficulties Spinal canal stenosis Myoclonus Oculomotor apraxia Involuntary movements Narrow face Intellectual disability, profound Cataract Depressed nasal bridge Limb undergrowth Severe short stature Low-set ears Long nose Decreased muscle mass Drooling Optic atrophy Apraxia Stereotypy Narrow forehead Talipes Cerebellar hypoplasia Joint stiffness Intellectual disability, mild Downslanted palpebral fissures Wide nasal bridge Brachydactyly Frontal bossing Apnea Tetraplegia Hypertrichosis Gait disturbance Pes planus Pectus carinatum Distal muscle weakness Babinski sign Abnormality of the skeletal system Cognitive impairment Abnormality of the foot Unsteady gait Infantile muscular hypotonia Generalized amyotrophy Aplasia/Hypoplasia of the corpus callosum Intellectual disability, progressive Muscle weakness Truncal ataxia Mutism Myoglobinuria Tubular atrophy Scanning speech Postnatal microcephaly Decreased body weight Open mouth Glomerulopathy Cachexia Hyperkinesis Adducted thumb Steroid-resistant nephrotic syndrome Abnormality of the thorax Focal segmental glomerulosclerosis Aplasia/Hypoplasia of the cerebellum Bowel incontinence Ophthalmoparesis Dysphasia Slender finger Atrophy/Degeneration affecting the brainstem Dyslexia Abnormality of the nose Happy demeanor Neuronal loss in central nervous system Long face Urinary incontinence Obstructive sleep apnea Aplasia/hypoplasia of the extremities Long thorax Neonatal short-limb short stature Diaphyseal thickening Large forehead Abnormality of the elbow Disproportionate short stature Childhood onset short-limb short stature Limited elbow extension Mesomelia Flared metaphysis Chronic otitis media Elbow dislocation Abnormality of pelvic girdle bone morphology Narrow sacroiliac notch Abnormality of the ilium Sleep disturbance Developmental regression Conspicuously happy disposition Glutaric aciduria Ophthalmoplegia Arthrogryposis multiplex congenita Severe global developmental delay Feeding difficulties in infancy Macrotia Acromelia Gastroesophageal reflux Mandibular prognathia Pectus excavatum Recurrent myoglobinuria Exercise-induced myoglobinuria Dysphagia Rapid neurologic deterioration Inappropriate laughter Hypertelorism Photosensitive tonic-clonic seizures Syringomyelia Lactic acidosis Chordee Delayed CNS myelination Hepatic failure Central hypotonia Nephropathy Metabolic acidosis Stroke Postural instability Narrow nasal bridge Short long bone Supernumerary nipple Hypoplastic toenails Muscle cramps Tethered cord Muscular hypotonia of the trunk Patent foramen ovale Visual loss Cerebral white matter hypoplasia Anemia Fatigue Respiratory distress Cardiomyopathy Renal insufficiency Elevated serum creatine phosphokinase Lower limb hypertonia Rod-cone dystrophy Narrow nasal tip Hypogonadism Respiratory failure Acidosis Proteinuria Hypertrophic cardiomyopathy Progressive cerebellar ataxia Aciduria Loss of ability to walk in first decade Hyperextensible skin Exercise intolerance Ragged-red muscle fibers Thin upper lip vermilion Brachycephaly Prominent forehead Clinodactyly of the 5th finger Clinodactyly Progressive muscle weakness Hypospadias Ptosis Failure to thrive in infancy Cryptorchidism Glomerulosclerosis Glomerulonephritis Sensorineural hearing impairment Hypergonadotropic hypogonadism Progressive neurologic deterioration Memory impairment Abnormal vertebral morphology Specific learning disability Bilateral ptosis Bilateral sensorineural hearing impairment Widely spaced teeth Nephrotic syndrome Finger clinodactyly Short thumb Synophrys Exotropia Blue sclerae Pancytopenia Delayed myelination Tapered finger Highly arched eyebrow Downturned corners of mouth Genu varum Myopia Disproportionate short-limb short stature Hyporeflexia of lower limbs Abnormality of the Achilles tendon Pili canaliculi Abnormality of the pituitary gland Curly eyelashes Abnormal hand morphology Red hair Morphological abnormality of the pyramidal tract Blindness Areflexia of lower limbs Woolly hair Bulbar signs Motor axonal neuropathy Facial diplegia Axonal loss Diffuse axonal swelling Hyperactivity Decreased number of peripheral myelinated nerve fibers Tetraparesis Global brain atrophy Self-injurious behavior Focal impaired awareness seizure Spastic tetraparesis Progressive microcephaly Cerebral visual impairment Hypotelorism EEG abnormality Febrile seizures Chorea Dyskinesia Abnormality of movement Autistic behavior Intellectual disability, moderate Aggressive behavior Curly hair Amyotrophic lateral sclerosis Infantile spasms Upper limb hypertonia Facial palsy Proximal muscle weakness High forehead Pes cavus Areflexia Peripheral neuropathy Abnormality of the auditory canal Genu valgum Hyperreflexia in upper limbs Impaired proprioception Limb dystonia Cortical dysplasia Impaired vibratory sensation Lower limb spasticity Limb muscle weakness Peripheral axonal neuropathy Brisk reflexes Sensorimotor neuropathy Sensory axonal neuropathy Steppage gait Abnormality of the hand CNS hypomyelination Spastic paraparesis Paraparesis Fasciculations Falls Abnormality of the hair Sensory impairment Abnormal cerebellum morphology Polyneuropathy Sensory neuropathy Distal sensory impairment Distal amyotrophy Disproportionate tall stature Atonic seizures Acanthosis nigricans Abnormal autonomic nervous system physiology Hydrocephalus Intrauterine growth retardation Hand clenching Sparse eyebrow Brittle hair Sparse eyelashes Broad-based gait Midface retrusion Choreoathetosis Fine hair Dandy-Walker malformation Dysmetria Protruding ear Kyphoscoliosis Malar flattening Obesity Hyporeflexia Lumbar hyperlordosis Wormian bones Rhizomelia Dental crowding Bowing of the long bones Abnormal form of the vertebral bodies Abnormality of the metaphysis Abnormality of the ribs Hyperhidrosis Dental malocclusion Sudden cardiac death Short palm Micromelia Neurological speech impairment Hyperlordosis Conductive hearing impairment Agenesis of corpus callosum Short nose Bruxism Waddling gait Genu recurvatum Overweight Abnormality of the periventricular white matter Progressive spastic paraplegia Pointed chin Amblyopia Bulbous nose Generalized joint laxity Short philtrum Wide mouth Neonatal hypotonia Coarse facial features Inappropriate crying Oculogyric crisis Profound global developmental delay Facial hypotonia Spastic dysarthria Abnormality of the dentition Hypermetropia Tremor Hypopnea Cutaneous syndactyly Knee flexion contracture Flat face Astigmatism Abnormality of the liver Acetabular dysplasia Craniosynostosis Osteopenia Recurrent infections Syndactyly Prominent antihelix Shyness Everted upper lip vermilion Crescentic glomerulonephritis


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