Pain, and Abnormality of eye movement

Diseases related with Pain and Abnormality of eye movement

In the following list you will find some of the most common rare diseases related to Pain and Abnormality of eye movement that can help you solving undiagnosed cases.


Top matches:

Low match ACETAZOLAMIDE-RESPONSIVE MYOTONIA


Acetazolamide-responsive myotonia is a form of potassium-aggravated myotonia (PAM, see this term) which shows dramatic improvement with the use of acetazolamide (ACZ).

ACETAZOLAMIDE-RESPONSIVE MYOTONIA Is also known as painful myotonia|acetazolamide-responsive congenital myotonia|acz-responsive congenital myotonia|painful congenital myotonia|myotonia-painful contractions syndrome|acz-responsive myotonia

Related symptoms:

  • Gait disturbance
  • Dysphagia
  • Hypertonia
  • Hypothyroidism
  • Myalgia


SOURCES: ORPHANET MENDELIAN

More info about ACETAZOLAMIDE-RESPONSIVE MYOTONIA

Low match SPINOCEREBELLAR ATAXIA 43; SCA43


Spinocerebellar ataxia-43 is an autosomal dominant, slowly progressive neurologic disorder characterized by adult-onset gait and limb ataxia and often associated with peripheral neuropathy mainly affecting the motor system, although some patients may have distal sensory impairment (summary by Depondt et al., 2016).For a general discussion of autosomal dominant spinocerebellar ataxia, see SCA1 (OMIM ).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Pain
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA 43; SCA43

Low match SPINOCEREBELLAR ATAXIA TYPE 43


Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.

SPINOCEREBELLAR ATAXIA TYPE 43 Is also known as sca43

Related symptoms:

  • Pain
  • Dysarthria
  • Areflexia
  • Hyporeflexia
  • Pes cavus


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 43

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Other less relevant matches:

Low match DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3


Dyschromatosis universalis hereditaria (DUH) is a rare autosomal dominant genodermatosis characterized by irregularly shaped asymptomatic hyper- and hypopigmented macules that appear in infancy or early childhood and occur in a generalized distribution over the trunk, limbs, and sometimes the face. Involvement of the palms or soles is unusual. Abnormalities of hair and nails have been reported, and DUH may be associated with abnormalities of dermal connective tissue, nerve tissue, or other systemic complications (summary by Zhang et al., 2013).For a discussion of genetic heterogeneity of DUH, see DUH1 (OMIM ).

Related symptoms:

  • Neoplasm
  • Pain
  • Coloboma
  • Pruritus
  • Hypopigmentation of the skin


SOURCES: OMIM MENDELIAN

More info about DYSCHROMATOSIS UNIVERSALIS HEREDITARIA 3; DUH3

Low match MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B


Mitochondrial DNA depletion syndrome-12B is an autosomal recessive mitochondrial disorder characterized by childhood onset of slowly progressive hypertrophic cardiomyopathy and generalized skeletal myopathy resulting in exercise intolerance, and, in some patients, muscle weakness and atrophy. Skeletal muscle biopsy shows ragged-red fibers, mtDNA depletion, and accumulation of abnormal mitochondria (summary by Echaniz-Laguna et al., 2012).For a discussion of genetic heterogeneity of mtDNA depletion syndromes, see MTDPS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Cataract
  • Ptosis
  • Cognitive impairment
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B

Low match SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME


Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME Is also known as spoan|spg68|autosomal recessive spastic paraplegia type 68

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME

Low match MYOTONIA FLUCTUANS


Myotonia fluctuans (MF) is a form of potassium-aggravated myotonia (PAM, see this term) which is cold insensitive, dramatically fluctuating and profoundly worsened by potassium ingestion.

MYOTONIA FLUCTUANS Is also known as fluctuating myotonia|exercise-induced delayed-onset myotonia

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Gait disturbance
  • Dysphagia
  • Myopathy


SOURCES: ORPHANET MENDELIAN

More info about MYOTONIA FLUCTUANS

Low match SPINOCEREBELLAR ATAXIA TYPE 25


Spinocerebellar ataxia type 25 (SCA25) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by cerebellar ataxia and prominent sensory neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 25 Is also known as sca25

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Strabismus
  • Visual impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 25

Low match SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME


Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by global development delay with very limited or absent speech and language, severe intellectual disability, long slender fingers, ocular abnormalities (typically strabismus or hypermetropia), and facial dysmorphism that includes a grimacing facial expression, a tubular-shaped nose with a prominent, broad base and tip, and other variable features, such as broad forehead, hypertelorism, deep-set eyes, narrow palpebral fissures, short philtrum and/or broad mouth.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Strabismus


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-POOR LANGUAGE-STRABISMUS-GRIMACING FACE-LONG FINGERS SYNDROME

Low match MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1


MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1 Is also known as mhp1|fhm

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MIGRAINE, FAMILIAL HEMIPLEGIC, 1; FHM1

Top 5 symptoms//phenotypes associated to Pain and Abnormality of eye movement

Symptoms // Phenotype % cases
Dysarthria Uncommon - Between 30% and 50% cases
Gait ataxia Uncommon - Between 30% and 50% cases
Nystagmus Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Pes cavus Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Pain and Abnormality of eye movement. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Distal sensory impairment Dysphagia Distal amyotrophy Motor delay Global developmental delay Myalgia Peripheral neuropathy Cerebellar atrophy Hyporeflexia Peripheral axonal neuropathy

Rare Symptoms - Less than 30% cases


Sensorimotor neuropathy Progressive cerebellar ataxia Areflexia Decreased number of large peripheral myelinated nerve fibers Muscle weakness Gait disturbance Cognitive impairment Myopathy Cogwheel rigidity Scoliosis Sensory neuropathy Decreased number of peripheral myelinated nerve fibers Generalized hypotonia Intellectual disability Strabismus Hypometric saccades Skeletal muscle atrophy Distal lower limb amyotrophy Pectus carinatum Hypertonia Ophthalmoplegia Muscle cramps Chest pain EMG abnormality Myotonia Ophthalmoparesis Skeletal muscle hypertrophy Cerebellar vermis atrophy Tremor Tics Limb ataxia Unsteady gait Psychosis Wide nasal bridge Blepharophimosis Sparse hair Migraine with aura Wide mouth Neonatal hypotonia Deeply set eye Thin upper lip vermilion Dysphasia Hyperactivity Intellectual disability, severe Downslanted palpebral fissures Depressed nasal bridge Broad forehead Abnormal facial shape Hypertelorism Drowsiness Psychotic episodes Abnormal morphology of the cerebellar cortex Facial tics Abolished vibration sense Impaired distal tactile sensation Visual hallucinations Facial myokymia Diffuse cerebellar atrophy Spastic dysarthria Areflexia of lower limbs Short philtrum Poor speech Hypermetropia Hearing impairment Abnormal cerebellum morphology Coma Hemiparesis Retinal degeneration Paresthesia Dyscalculia EMG: neuropathic changes Confusion Anxiety Headache Hallucinations Edema Fever Seizures Migraine Inappropriate laughter Long toe Fair hair Self-mutilation Long palpebral fissure Long fingers Language impairment Narrow palpebral fissure Hemiplegia Agitation Broad nasal tip Auditory hallucinations Astigmatism Fine hair Multiple joint contractures Episodic abdominal pain Cataract Ragged-red muscle fibers External ophthalmoplegia Exercise intolerance Generalized muscle weakness Lactic acidosis Congenital cataract Hypertrophic cardiomyopathy Acidosis Obesity Cardiomyopathy Respiratory distress Fatigue Ptosis Neoplasm of the skin Gowers sign Hypopigmentation of the skin Pruritus Coloboma Neoplasm Distal upper limb muscle weakness Distal lower limb muscle weakness Foot dorsiflexor weakness Dementia Palmomental reflex Limb pain Sensory impairment Polyneuropathy Rigidity Hypothyroidism Dysphonia Mitochondrial myopathy Impaired pain sensation Hyporeflexia of lower limbs Urinary urgency Reduced visual acuity Babinski sign Vomiting Visual impairment Muscular edema Dysesthesia Blepharospasm Hyperkalemia Dyspnea Elevated serum creatine phosphokinase Spasticity Hyperreflexia proximally Exaggerated startle response Motor axonal neuropathy Skeletal myopathy Impaired vibration sensation in the lower limbs Progressive spastic paraplegia Sensory axonal neuropathy Delayed gross motor development Abnormality of extrapyramidal motor function Optic disc pallor Paraplegia Spastic paraplegia Difficulty walking Hyperhidrosis Kyphosis Dystonia Optic atrophy Flexion contracture Transient unilateral blurring of vision



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