Seizures, and Limitation of joint mobility

Diseases related with Seizures and Limitation of joint mobility

In the following list you will find some of the most common rare diseases related to Seizures and Limitation of joint mobility that can help you solving undiagnosed cases.


Top matches:

Low match CHONDROCALCINOSIS 2; CCAL2

Chondrocalcinosis, or cartilage calcification, is a common condition that usually results from deposition of crystals of calcium pyrophosphate dihydrate (CPPD) in articular hyaline and fibro-cartilage. CPPD crystal deposition may be asymptomatic or associated with characteristic acute attacks ('pseudogout') or chronic arthritis. It can be detected radiographically. Chondrocalcinosis occurs in 3 forms: a primary hereditary form (e.g., CCAL2); a form associated with metabolic disorders (e.g., hyperparathyroidism, hemochromatosis, and hypomagnesemia), and a sporadic form, which may in some cases represent the hereditary form (summary by Hughes et al., 1995 and Richette et al., 2009). Genetic Heterogeneity of ChondrocalcinosisAnother form of chondrocalcinosis (CCAL1 ) has been mapped to chromosome 8q.

CHONDROCALCINOSIS 2; CCAL2 Is also known as chondrocalcinosis, familial articular, calcium gout, calcium pyrophosphate arthropathy, calcium pyrophosphate dihydrate deposition disease;cppdd;calcium pyrophosphate dihydrate crystal deposition disease; familial cc; familial cppd; familial articular chondrocalcinosis; hereditary cc; hereditary articular chondrocalcinosis; hereditary calcium pyrophosphate deposition

Related symptoms:

  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Pica
  • Milia


SOURCES: ICD10 ORPHANET UMLS OMIM

More info about CHONDROCALCINOSIS 2; CCAL2

Low match MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism


SOURCES: MONDO UMLS OMIM MESH

More info about MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6

Low match ATYPICAL TERATOID RHABDOID TUMOR

Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children.

ATYPICAL TERATOID RHABDOID TUMOR Is also known as atrt

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET

More info about ATYPICAL TERATOID RHABDOID TUMOR

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Other less relevant matches:

Low match SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6

Autosomal dominant spastic paraplegia type 6 (SPG6) is a form of hereditary spastic paraplegia which usually presents in late adolescence or early adulthood as a pure phenotype of lower limb spasticity with hyperreflexia and extensor plantar responses, as well as mild bladder disturbances and pes cavus. Rarely, it can present as a complex phenotype with additional manifestations including epilepsy, variable peripheral neuropathy and/or memory impairment.

SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6 Is also known as familial spastic paraplegia, autosomal dominant, 3;fsp3;spg6

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Milia
  • Spasticity
  • Hyperreflexia


SOURCES: DOID GARD OMIM MESH MONDO ORPHANET UMLS

More info about SPASTIC PARAPLEGIA 6, AUTOSOMAL DOMINANT; SPG6

Low match KAHRIZI SYNDROME; KHRZ

Kahrizi syndrome is an autosomal recessive neurodevelopmental disorder characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features (summary by Kahrizi et al., 2009).See also congenital disorder of glycosylation type Iq (CDG1Q ), an allelic disorder with overlapping features.

KAHRIZI SYNDROME; KHRZ Is also known as mental retardation, cataract, coloboma, and kyphosis, autosomal recessive

Related symptoms:

  • Autosomal recessive inheritance
  • Intellectual disability
  • Seizures
  • Motor delay
  • Cataract


SOURCES: UMLS DOID MESH OMIM ORPHANET MONDO

More info about KAHRIZI SYNDROME; KHRZ

Low match HYPEREKPLEXIA, HEREDITARY 1; HKPX1

Hyperekplexia is an early-onset neurologic disorder characterized by an exaggerated startle response to sudden, unexpected auditory or tactile stimuli. Affected individuals have brief episodes of intense, generalized hypertonia in response to stimulation. Neonates may have prolonged periods of rigidity and are at risk for sudden death from apnea or aspiration. Many affected infants have inguinal hernias. The symptoms tend to resolve after infancy, but adults may have increased startle-induced falls and/or experience nocturnal muscle jerks (summary by Ryan et al., 1992). Genetic Heterogeneity of HyperekplexiaSee also HKPX2 (OMIM ), caused by mutation in the GLRB gene (OMIM ) on chromosome 4q31, and HKPX3 (OMIM ), caused by mutation in the GLYT2 gene (SLC6A5 ) on chromosome 11p15.Hyperekplexia can also occur in early infantile epileptic encephalopathy-8 (EIEE8 ), caused by mutation in the ARHGEF9 gene (OMIM ).See also sporadic stiff-man syndrome (OMIM ) and the 'Jumping Frenchmen of Maine' (OMIM ).

HYPEREKPLEXIA, HEREDITARY 1; HKPX1 Is also known as startle disease, familial, startle reaction, exaggerated, exaggerated startle reaction, sthe, stiff-baby syndrome, stiff-man syndrome, congenital, stiff-person syndrome, congenital, kok disease;congenital stiff man syndrome; familial startle disease; hereditary hyperexplexia; hyperekplexia; kok disease; stiff baby syndrome

Related symptoms:

  • Autosomal recessive inheritance
  • Autosomal dominant inheritance
  • Intellectual disability
  • Seizures
  • Ataxia


SOURCES: OMIM UMLS ORPHANET DOID MONDO SCTID

More info about HYPEREKPLEXIA, HEREDITARY 1; HKPX1

Low match PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1

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 NONKINESIGENIC DYSKINESIA 1; PNKD1 Is also known as paroxysmal dystonic choreoathetosis;pdc, choreoathetosis, familial paroxysmal;fpd1, mount-reback syndrome, choreoathetosis, nonkinesigenic, dystonia 8;dyt8;paroxystic non-kinesigenic choreoathetosis

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Pica
  • Ataxia
  • Milia


SOURCES: OMIM UMLS SCTID ORPHANET

More info about PAROXYSMAL NONKINESIGENIC DYSKINESIA 1; PNKD1

Low match MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST

X-linked intellectual disability, Turner type is characterised by moderate to severe intellectual deficit in boys and moderate intellectual deficit in girls. It has been described in 14 members from four generations of one family. Macrocephaly was reported and holoprosencephaly may also be present (two family members). The mode of transmission is X-linked semi-dominant.

MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST Is also known as mental retardation and macrocephaly syndrome;

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Flexion contracture
  • Delayed speech and language development


SOURCES: OMIM UMLS DOID MONDO ORPHANET MESH

More info about MENTAL RETARDATION, X-LINKED, SYNDROMIC, TURNER TYPE; MRXST

Low match MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B

Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death.

MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B Is also known as muscular dystrophy, proximal, type 1b;lgmd1b; limb-girdle muscular dystrophy due to lamin a/c deficiency

Related symptoms:

  • Autosomal dominant inheritance
  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Myopathy


SOURCES: SCTID DOID UMLS ORPHANET OMIM MONDO GARD MESH

More info about MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1B; LGMD1B

Low match CRISPONI SYNDROME

Crisponi syndrome (CS) is a severe disorder characterized by muscular contractions at birth, intermittent hyperthermia, facial abnormalities and camptodactyly.

Related symptoms:

  • Seizures
  • Scoliosis
  • Micrognathia
  • Cognitive impairment
  • Flexion contracture


SOURCES: ORPHANET UMLS

More info about CRISPONI SYNDROME

Top 5 symptoms//phenotypes associated to Seizures and Limitation of joint mobility

Symptoms // Phenotype % cases
Autosomal dominant inheritance Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Joint stiffness Uncommon - Between 30% and 50% cases
Hypertonia Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Seizures and Limitation of joint mobility. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Autosomal recessive inheritance Spasticity Hyperreflexia Intellectual disability, severe Milia Ataxia

Rare Symptoms - Less than 30% cases


Migraine Muscle weakness Infantile onset Rigidity Sudden cardiac death Skeletal muscle atrophy Gait disturbance Knee flexion contracture Clonus Spastic paraplegia Elbow flexion contracture Paraplegia Kyphosis Wide nasal bridge Respiratory insufficiency Abnormality of movement Macrocephaly Intellectual disability, moderate Joint dislocation Pica Myokymia Feeding difficulties Limited elbow extension Encephalitis Obesity Involuntary movements Torticollis Holoprosencephaly Delayed gross motor development Long fingers Hyperkinesis Ankle contracture Macroorchidism Childhood onset Choreoathetosis Athetosis Intellectual disability, mild Female infertility Trismus Delayed speech and language development Global developmental delay Tapered finger Absent nares Oxycephaly Staring gaze Coarse facial features X-linked inheritance Kernicterus Long face Hypotelorism Abnormality of the fingernails Paroxysmal choreoathetosis Paroxysmal dystonia Intellectual disability, profound Paroxysmal dyskinesia Facial grimacing Episodic ataxia Downslanted palpebral fissures Pointed chin Difficulty walking Generalized hypotonia Cognitive impairment Atrial arrhythmia Proximal muscle weakness in upper limbs Proximal spinal muscular atrophy Abnormal atrioventricular conduction Limb-girdle muscle atrophy Fatiguable weakness of proximal limb muscles Pelvic girdle amyotrophy Scoliosis Micrognathia High palate Progressive proximal muscle weakness Anteverted nares Long philtrum Narrow mouth Hyperhidrosis Camptodactyly of finger Wide nose Death in infancy Full cheeks Hypohidrosis Malignant hyperthermia Pelvic girdle muscle weakness Shoulder girdle muscle weakness Myopathy Dilated cardiomyopathy Cardiomyopathy Arrhythmia Midface retrusion Elevated serum creatine phosphokinase Facial palsy Proximal muscle weakness Neonatal hypotonia Slow progression Dyskinesia Muscular dystrophy Waddling gait Achilles tendon contracture Syncope Myocardial infarction Bradycardia Atrial fibrillation EMG: myopathic abnormalities Lipodystrophy Spinal muscular atrophy Congenital muscular dystrophy Difficulty climbing stairs Difficulty running Generalized muscle weakness Myotonia Chorea Malignant neoplasm of the central nervous system Irritability Nausea and vomiting Cerebral calcification Cranial nerve paralysis Cerebral palsy Apathy Hemiplegia/hemiparesis Reduced consciousness/confusion Tremor Small cerebral cortex Pes cavus Babinski sign Progressive Lower limb muscle weakness Urinary incontinence Generalized tonic-clonic seizures Spastic gait Lower limb spasticity Postural tremor Hydrocephalus Bifid nasal tip Urinary urgency Joint swelling Pain Arthritis Arthralgia Adult onset Osteoarthritis Calcinosis Arthropathy Back pain Gout Chondrocalcinosis Microtia Ankylosis Abnormality of the intervertebral disk Calcification of cartilage Polyarticular chondrocalcinosis Microcephaly Hypertelorism Strabismus Heterogeneous Congenital onset Impaired vibratory sensation Lower limb hyperreflexia Neurological speech impairment Hiatus hernia Sleep disturbance Frequent falls Fasciculations Congenital hip dislocation Aspiration Muscle stiffness Hypokinesia Atonic seizures Esophagitis Apnea Exaggerated startle response Snout reflex Dysarthria Dysphagia Dystonia Fatigue Headache Jaundice Dyspnea Hip dislocation Anxiety Urinary bladder sphincter dysfunction Iris coloboma Impaired vibration sensation in the lower limbs Degeneration of the lateral corticospinal tracts Insidious onset Limited hip movement Limitation of movement at ankles Motor delay Cataract Coloboma Bulbous nose Thick vermilion border Umbilical hernia Thick lower lip vermilion Intellectual disability, progressive Hemangioma Thoracic kyphosis Capillary hemangioma Inguinal hernia Hernia Myoclonus Gastroesophageal reflux Large face



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