Arthritis, and Dyskinesia

Diseases related with Arthritis and Dyskinesia

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


Top matches:

Low match ASPARTYLGLUCOSAMINURIA


Aspartylglycosaminuria (AGU) is an autosomal recessive lysosomal storage disease belonging to the oligosaccharidosis group (also called glycoproteinosis).

ASPARTYLGLUCOSAMINURIA Is also known as aspartylglucosaminidase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Hypertelorism
  • Abnormal facial shape


SOURCES: ORPHANET MENDELIAN

More info about ASPARTYLGLUCOSAMINURIA

Low match X-LINKED PARKINSONISM-SPASTICITY SYNDROME


X-linked parkinsonism-spasticity syndrome is a rare genetic neurological disorder characterized by parkinsonian features (including resting or action tremor, cogwheel rigidity, hypomimia and bradykinesia) associated with variably penetrant spasticity, hyperactive deep tendon reflexes and Babinski sign.

X-LINKED PARKINSONISM-SPASTICITY SYNDROME Is also known as xpds

Related symptoms:

  • Seizures
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Babinski sign


SOURCES: ORPHANET OMIM MENDELIAN

More info about X-LINKED PARKINSONISM-SPASTICITY SYNDROME

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D


PCH2D is an autosomal recessive disorder characterized by progressive microcephaly, postnatal onset of progressive atrophy of the cerebrum and cerebellum, profound mental retardation, spasticity, and variable seizures (summary by Ben-Zeev et al., 2003).For a general phenotypic description and a discussion of genetic heterogeneity of pontocerebellar hypoplasia type 2, see PCH2A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D Is also known as pcca|cerebellocerebral atrophy, progressive

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Ataxia


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 2D; PCH2D

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Other less relevant matches:

Low match PAROXYSMAL NON-KINESIGENIC DYSKINESIA


Paroxysmal non-kinesigenic dyskinesia (PNKD) is a form of paroxysmal dyskinesia (see this term), characterized by attacks of dystonic or choreathetotic movements precipitated by stress, fatigue, coffee or alcohol intake or menstruation.

PAROXYSMAL NON-KINESIGENIC DYSKINESIA Is also known as paroxysmal dystonic choreoathetosis|choreoathetosis, nonkinesigenic|pdc|dystonia 8|paroxystic non-kinesigenic choreoathetosis|dyt8|choreoathetosis, familial paroxysmal|mount-reback syndrome|fpd1

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Dysarthria
  • Fatigue


SOURCES: OMIM ORPHANET MENDELIAN

More info about PAROXYSMAL NON-KINESIGENIC DYSKINESIA

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29; EIEE29


Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 29; EIEE29

Low match ATAXIA-TELANGIECTASIA-LIKE DISORDER


ATAXIA-TELANGIECTASIA-LIKE DISORDER Is also known as atld

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Delayed speech and language development
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about ATAXIA-TELANGIECTASIA-LIKE DISORDER

Low match SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5


Benign familial infantile seizures-5 (BFIS5) is an autosomal dominant neurologic disorder characterized by onset of afebrile seizures during infancy. In most cases, the seizures remit by age 2 years, although some patients may have single or a few seizures later in childhood. The seizures respond well to treatment with sodium channel blockers, and patients have normal subsequent psychomotor development. Some patients may develop paroxysmal kinesigenic dyskinesia around puberty (summary by Gardella et al., 2016 and Anand et al., 2016).For a general phenotypic description and a discussion of genetic heterogeneity of benign familial infantile seizures, see BFIS1 (OMIM ).

SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5 Is also known as convulsions, benign familial infantile, 5|bfic5

Related symptoms:

  • Seizures
  • Dystonia
  • Generalized tonic-clonic seizures
  • Dyskinesia
  • Choreoathetosis


SOURCES: OMIM MENDELIAN

More info about SEIZURES, BENIGN FAMILIAL INFANTILE, 5; BFIS5

Low match SPERMATOGENIC FAILURE 27; SPGF27


Spermatogenic failure-27 (SPGF27) is characterized by infertility due to multiple morphologic abnormalities of the sperm flagella (MMAF), a phenotype also designated as 'dysplasia of the fibrous sheath,' 'short tails,' or 'stump tails.' Spermatozoa in the ejaculate exhibit short, irregular, coiled, or absent flagella. Ultrastructural analysis shows loss of the central pair of microtubules, loss of the inner dynein arms, and peripheral doublet disorganization (Lores et al., 2018).For a discussion of the phenotypic and genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Related symptoms:

  • Infertility
  • Dyskinesia
  • Ciliary dyskinesia


SOURCES: OMIM MENDELIAN

More info about SPERMATOGENIC FAILURE 27; SPGF27

Low match SPERMATOGENIC FAILURE 20; SPGF20


Spermatogenic failure-20 is characterized by multiple morphologic abnormalities of the flagella, including absent, short, coiled, bent, and irregular-caliber flagella (Tang et al., 2017).For a general phenotypic description and a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Related symptoms:

  • Infertility
  • Dyskinesia
  • Ciliary dyskinesia


SOURCES: OMIM MENDELIAN

More info about SPERMATOGENIC FAILURE 20; SPGF20

Low match SPERMATOGENIC FAILURE 18; SPGF18


Spermatogenic failure-18 is a form of male infertility caused by multiple morphologic abnormalities of the sperm flagella (Ben Khelifa et al., 2014).For a discussion of genetic heterogeneity of spermatogenic failure, see SPGF1 (OMIM ).

Related symptoms:

  • Infertility
  • Dyskinesia
  • Ciliary dyskinesia
  • Male infertility


SOURCES: OMIM MENDELIAN

More info about SPERMATOGENIC FAILURE 18; SPGF18

Top 5 symptoms//phenotypes associated to Arthritis and Dyskinesia

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Dystonia Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Chorea Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Arthritis and Dyskinesia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Ciliary dyskinesia Infertility

Rare Symptoms - Less than 30% cases


Hyperactive deep tendon reflexes Rigidity Generalized hypotonia Short stature Paroxysmal choreoathetosis Mask-like facies Intellectual disability Diffuse cerebral atrophy Global developmental delay Microcephaly Cerebellar atrophy Cerebral atrophy Choreoathetosis Myoclonus Sleep disturbance Dysarthria Joint stiffness Neurological speech impairment Delayed speech and language development Sensorimotor neuropathy Vertical nystagmus Absent Achilles reflex Myokymia Episodic ataxia Trismus Encephalitis Orofacial dyskinesia Dilated fourth ventricle Dysmetric saccades Hyperkinesis Torticollis Small posterior fossa Abnormality of ocular smooth pursuit Facial grimacing Involuntary movements Enlarged interhemispheric fissure Generalized tonic-clonic seizures Migraine Generalized muscle weakness Paraplegia Abnormality of movement Spastic paraplegia Dyspnea Shivering Headache Slow saccadic eye movements Paroxysmal dystonia Paroxysmal dyskinesia Hip dislocation Intention tremor Hypergonadotropic hypogonadism Cerebellar vermis hypoplasia Dysmetria Joint laxity Gait ataxia Pes cavus Congenital microcephaly Blepharospasm Failure to thrive in infancy CNS hypomyelination Epileptic encephalopathy Areflexia Frequent falls Encephalopathy Dysphagia Oculomotor apraxia Peripheral neuropathy Failure to thrive Nystagmus Reduced tendon reflexes Drooling Staring gaze Dysdiadochokinesis Kernicterus Gaze-evoked nystagmus Intrauterine growth retardation Intellectual disability, profound Fatigue Pes planus Macroorchidism Abnormality of the ulna Thickened calvaria Chronic otitis media Abnormal vertebral morphology Gingival overgrowth Macroglossia Thick vermilion border Malabsorption Carious teeth Microtia Pectus carinatum Umbilical hernia Abnormal cortical bone morphology Coarse facial features Mandibular prognathia Recurrent respiratory infections Delayed skeletal maturation Inguinal hernia Short nose Splenomegaly Behavioral abnormality Abnormality of the dentition Wide nasal bridge Hepatomegaly Abnormal facial shape Hypertelorism Scoliosis Beaking of vertebral bodies Large face Limb joint contracture Cogwheel rigidity Abnormality of the periventricular white matter Cerebellar vermis atrophy Progressive spasticity Clonus Progressive microcephaly Postnatal microcephaly Spastic tetraplegia Delayed myelination Irritability Hypoplasia of the corpus callosum Flexion contracture Dilated third ventricle Scissor gait Dilation of lateral ventricles Vascular skin abnormality Resting tremor Ankle clonus Alzheimer disease Spastic paraparesis Paraparesis Bradykinesia Neuronal loss in central nervous system Parkinsonism Babinski sign Tremor Hyperreflexia Aspartylglucosaminuria Abnormality of amino acid metabolism Anterior beaking of lumbar vertebrae Male infertility



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