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 FAMILIAL CALCIUM PYROPHOSPHATE DEPOSITION


Familial calcium pyrophosphate deposition (CPPD) is a chronic inherited arthropathy characterized by chondrocalcinosis (CC; i.e. cartilage calcification), often associated with recurrent acute calcium pyrophosphate (CPP) crystal arthritis and polyarticular osteoarthritis (OA).

FAMILIAL CALCIUM PYROPHOSPHATE DEPOSITION Is also known as hereditary calcium pyrophosphate deposition|familial cc|familial cppd|familial articular chondrocalcinosis|calcium pyrophosphate dihydrate crystal deposition disease|hereditary articular chondrocalcinosis|hereditary cc|chondrocalcinosis with early-onset o

Related symptoms:

  • Seizures
  • Arthralgia
  • Arthritis
  • Limitation of joint mobility
  • Osteoarthritis


SOURCES: OMIM ORPHANET MENDELIAN

More info about FAMILIAL CALCIUM PYROPHOSPHATE DEPOSITION

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 calcium pyrophosphate dihydrate deposition disease|cppdd|calcium gout|chondrocalcinosis, familial articular|calcium pyrophosphate arthropathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Pain
  • Arthralgia
  • Arthritis


SOURCES: MESH OMIM MENDELIAN

More info about CHONDROCALCINOSIS 2; CCAL2

Low match MICROCEPHALY 6, PRIMARY, AUTOSOMAL RECESSIVE; MCPH6


Related symptoms:

  • Intellectual disability
  • Seizures
  • Microcephaly
  • Hypertelorism
  • Strabismus


SOURCES: OMIM MESH MENDELIAN

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

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Other less relevant matches:

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 6


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.

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

Related symptoms:

  • Seizures
  • Spasticity
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Tremor


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 6

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 MENDELIAN

More info about ATYPICAL TERATOID RHABDOID TUMOR

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:

  • Intellectual disability
  • Seizures
  • Cataract
  • Flexion contracture
  • Motor delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about KAHRIZI SYNDROME; KHRZ

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 HEREDITARY HYPEREKPLEXIA


Hereditary hyperekplexia is a hereditary neurological disorder characterized by excessive startle responses.

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

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Hyperreflexia


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY HYPEREKPLEXIA

Low match X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE


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.

X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE Is also known as mental retardation and macrocephaly syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Spasticity
  • Flexion contracture


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about X-LINKED INTELLECTUAL DISABILITY, TURNER TYPE

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 MENDELIAN

More info about CRISPONI SYNDROME

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

Symptoms // Phenotype % cases
Intellectual disability Uncommon - Between 30% and 50% cases
Spasticity Uncommon - Between 30% and 50% cases
Intellectual disability, severe Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Flexion contracture 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


Hypertonia Joint stiffness Hyperreflexia

Rare Symptoms - Less than 30% cases


Arthritis Intellectual disability, moderate Paraplegia Spastic paraplegia Gait disturbance Knee flexion contracture Osteoarthritis Migraine Chondrocalcinosis Coarse facial features Myokymia Kyphosis Rigidity Fatigue Abnormality of movement Arthralgia Macrocephaly Joint dislocation Myoclonus Sleep disturbance Epileptic encephalopathy Episodic ataxia Congenital hip dislocation Loss of consciousness Muscle stiffness Aspiration Fasciculations Myotonia Frequent falls Gastroesophageal reflux Falls Hip dislocation Apnea Anxiety Umbilical hernia Paroxysmal dyskinesia Inguinal hernia Encephalopathy Hernia Facial grimacing Fever Staring gaze Paroxysmal choreoathetosis Kernicterus Paroxysmal dystonia Hypokinesia Delayed speech and language development Atonic seizures Respiratory insufficiency Absent nares Scoliosis Micrognathia Cognitive impairment High palate Feeding difficulties Anteverted nares Long philtrum Macroorchidism Hyperhidrosis Narrow mouth Camptodactyly of finger Wide nose Sudden cardiac death Full cheeks Hypohidrosis Malignant hyperthermia Female infertility Ankle contracture Hiatus hernia Obesity Esophagitis Exaggerated startle response Nocturnal seizures Global developmental delay Encephalitis Downslanted palpebral fissures Intellectual disability, mild Long face Long fingers Tapered finger Hypotelorism Intellectual disability, profound Pointed chin Abnormality of the fingernails Holoprosencephaly Delayed gross motor development Limited elbow extension Trismus Dystonia Hyperkinesis Spastic gait Babinski sign Pes cavus Generalized tonic-clonic seizures Lower limb muscle weakness Urinary incontinence Lower limb spasticity Clonus Skeletal muscle atrophy Postural tremor Impaired vibratory sensation Urinary urgency Lower limb hyperreflexia Impaired vibration sensation in the lower limbs Urinary bladder sphincter dysfunction Tremor Small cerebral cortex Limited hip movement Arthropathy Joint swelling Abnormality of the intervertebral disk Calcification of cartilage Pain Back pain Hyperparathyroidism Ankylosis Bifid nasal tip Hypomagnesemia Neck pain Polyarticular chondrocalcinosis Microcephaly Hypertelorism Strabismus Microtia Degeneration of the lateral corticospinal tracts Limitation of movement at ankles Torticollis Headache Intellectual disability, progressive Hemangioma Thoracic kyphosis Capillary hemangioma Dysarthria Dysphagia Dyspnea Thick lower lip vermilion Neurological speech impairment Dyskinesia Generalized muscle weakness Chorea Choreoathetosis Involuntary movements Elbow flexion contracture Thick vermilion border Muscle weakness Apathy Hydrocephalus Irritability Nausea and vomiting Cerebral calcification Cranial nerve paralysis Cerebral palsy Hemiplegia/hemiparesis Iris coloboma Reduced consciousness/confusion Malignant neoplasm of the central nervous system Cataract Motor delay Wide nasal bridge Coloboma Bulbous nose Large face



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