Ataxia, and Myopia

Diseases related with Ataxia and Myopia

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


Top matches:

Medium match LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11


Hypomyelinating leukodystrophy-11 is an autosomal recessive neurologic disorder characterized by delayed psychomotor development and other neurologic features associated with hypomyelination on brain imaging. Some patients may have additional nonneurologic features, particularly dental abnormalities and possibly hypogonadotropic hypogonadism (summary by Thiffault et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see {312080}.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Ataxia
  • Spasticity
  • Myopia


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 11; HLD11

Low match ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME


Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome is a rare neuro-ophthalmological disease characterized by nonprogressive cerebellar ataxia, delayed motor and language development and intellectual disability, in addition to ophthalmological abnormalities (e.g. oculomotor apraxia, strabismus, amblyopia, retinal dystrophy and myopia). Cerebellar cysts, cerebellar dysplasia and cerebellar vermis hypoplasia, seen on magnetic resonance imaging, are also characteristic of the disease.

ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME Is also known as poretti-boltshauser syndrome

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Ataxia
  • Nystagmus
  • Strabismus


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATAXIA-INTELLECTUAL DISABILITY-OCULOMOTOR APRAXIA-CEREBELLAR CYSTS SYNDROME

Low match RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM


Related symptoms:

  • Seizures
  • Global developmental delay
  • Hearing impairment
  • Ataxia
  • Anemia


SOURCES: OMIM MENDELIAN

More info about RETINITIS PIGMENTOSA AND ERYTHROCYTIC MICROCYTOSIS; RPEM

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Other less relevant matches:

Low match USHER SYNDROME TYPE 2


Usher syndrome is a clinically and genetically heterogeneous autosomal recessive disorder characterized by sensorineural hearing deficiencies at birth and later development of progressive retinitis pigmentosa (RP). It is the most frequent cause of combined deafness and blindness in adults and affects 3 to 6% of children born with hearing impairment. In brief, patients with Usher syndrome type II have mild hearing impairment with normal vestibular responses. Type II is the most common of the 3 Usher syndromes (Eudy et al., 1998).See {276900} for clinical characterization of Usher syndrome types I, II, and III.For a discussion of genetic heterogeneity of Usher syndrome type II, see USH2A (OMIM ).

USHER SYNDROME TYPE 2 Is also known as ush2

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cataract


SOURCES: ORPHANET OMIM MENDELIAN

More info about USHER SYNDROME TYPE 2

Low match INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME

Low match GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15


GPIBD15 is an autosomal recessive disorder characterized by delayed psychomotor development, variable intellectual disability, hypotonia, early-onset seizures in most patients, and cerebellar atrophy, resulting in cerebellar signs including gait ataxia and dysarthria. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Nguyen et al., 2017).For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (OMIM ).

GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15 Is also known as developmental delay, epilepsy, cerebellar atrophy, and osteopenia

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about GLYCOSYLPHOSPHATIDYLINOSITOL BIOSYNTHESIS DEFECT 15; GPIBD15

Low match LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8


Hypomyelinating leukodystrophy-8 is an autosomal recessive neurologic disorder characterized by early childhood onset of cerebellar ataxia and mild intellectual disabilities associated with diffuse hypomyelination apparent on brain MRI. Variable features include oligodontia and/or hypogonadotropic hypogonadism (summary by Tetreault et al., 2011).See also HLD7 (OMIM ), which has similar features and is caused by mutation in the POLR3A gene (OMIM ) on chromosome 10q22. The POLR3A and POLR3B genes encode the 2 largest subunits of RNA polymerase III.For a general phenotypic description and a discussion of genetic heterogeneity of hypomyelinating leukodystrophy, see {312080}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM; HLD8

Low match LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2


LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2 Is also known as pelizaeus-merzbacher-like disease, 1|pmld1

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2

Low match NEUROECTODERMAL MELANOLYSOSOMAL DISEASE


Elejalde syndrome (ES) is characterized by silvery to leaden hair, bronze skin colour in sun-exposed areas and severe neurological impairment.

NEUROECTODERMAL MELANOLYSOSOMAL DISEASE Is also known as elejalde disease

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about NEUROECTODERMAL MELANOLYSOSOMAL DISEASE

Low match EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME


Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome is a genetic neurodegenerative disease characterized by normal early development followed by childhood onset optic atrophy with progressive vision loss and eventually blindness, followed by progressive neurological decline that typically includes cerebellar ataxia, nystagmus, dorsal column dysfunction (decreased vibration and position sense), spastic paraplegia and finally tetraparesis.

EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME Is also known as ndgoa|neurodegeneration with optic atrophy, childhood-onset

Related symptoms:

  • Seizures
  • Ataxia
  • Nystagmus
  • Spasticity
  • Cognitive impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET PROGRESSIVE NEURODEGENERATION-BLINDNESS-ATAXIA-SPASTICITY SYNDROME

Top 5 symptoms//phenotypes associated to Ataxia and Myopia

Symptoms // Phenotype % cases
Intellectual disability Common - Between 50% and 80% cases
Nystagmus Common - Between 50% and 80% cases
Seizures Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Spasticity Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Ataxia and Myopia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Tremor Optic atrophy Cerebellar atrophy Generalized hypotonia Intention tremor Cognitive impairment Cerebral atrophy Babinski sign Dysmetria Hyperreflexia Dysarthria Strabismus CNS hypomyelination Leukodystrophy

Rare Symptoms - Less than 30% cases


Peripheral neuropathy Cataract Visual loss Head titubation Cerebral cortical atrophy Rigidity Hypertonia Abnormal cerebellum morphology Flexion contracture Cerebral hypomyelination Subcortical cerebral atrophy Progressive spasticity Horizontal nystagmus Infantile muscular hypotonia Depressivity Cerebellar hypoplasia Gait ataxia Nyctalopia Poor speech Motor delay Hypogonadism Delayed speech and language development Muscular hypotonia Retinal atrophy Apraxia Hearing impairment Hypoplasia of the corpus callosum Oligodontia Hypogonadotrophic hypogonadism Dysdiadochokinesis Myokymia Fasciculations Frequent falls Myotonia Sensorimotor neuropathy Hypodontia Ankle clonus Delayed eruption of teeth Falls Abnormality of the cerebellar vermis Intellectual disability, mild Dysphagia Clonus Short stature Brisk reflexes Cerebral visual impairment Titubation Status epilepticus Upper limb spasticity Narrow forehead Generalized-onset seizure Hip dysplasia Gaze-evoked horizontal nystagmus Inability to walk Motor deterioration Delayed eruption of primary teeth Tetraparesis Hypopigmentation of the skin Pes cavus Rotary nystagmus Aplasia/Hypoplasia of the macula Demyelinating motor neuropathy Recurrent respiratory infections Abnormality of movement Specific learning disability Sensory axonal neuropathy Muscle stiffness Premature graying of hair Macular dystrophy Generalized hyperpigmentation Hypopigmentation of hair Cerebral cortical hemiatrophy Congenital nystagmus Decreased motor nerve conduction velocity Abnormality of the optic nerve Intellectual disability, moderate Impaired horizontal smooth pursuit Progressive visual loss Neurodegeneration Paraplegia Dystonia Muscular hypotonia of the trunk Facial palsy Spastic paraparesis Sensory neuropathy Spastic paraplegia Peripheral demyelination Pectus carinatum Choreoathetosis Pes planus Pendular nystagmus Exercise-induced muscle fatigue Unsteady gait Anisocytosis Edema Arthritis Pallor Abnormality of skin pigmentation Optic disc pallor Rheumatoid arthritis Macular edema Anemia Juvenile rheumatoid arthritis Poikilocytosis Retinal pigment epithelial atrophy Elliptocytosis Decreased mean corpuscular volume Epiretinal membrane Decreased serum iron Fever Retinal thinning Photoreceptor layer loss on macular OCT High myopia Abnormality of the dentition Abnormality of the nervous system Muscle weakness Elevated serum creatine phosphokinase Abnormality of the cerebral white matter Abnormality of eye movement Retinal dystrophy Cerebellar vermis hypoplasia Cerebellar cyst Heterotopia Amblyopia Oculomotor apraxia Abnormality of the periventricular white matter Abnormally large globe Dilated fourth ventricle Cerebellar dysplasia Ring scotoma Sensorineural hearing impairment EEG abnormality Right ventricular dilatation Chorea Truncal ataxia Hyperkinesis Limb-girdle muscular dystrophy Restrictive ventilatory defect Progressive proximal muscle weakness Hypertelorism Difficulty walking Abnormal facial shape Visual impairment Wide nasal bridge Anteverted nares Prominent forehead Osteoporosis Osteopenia Myalgia Myopathy Blindness Abnormal electroretinogram Rod-cone dystrophy Anxiety Carious teeth Microdontia Hallucinations Abnormality of dental enamel Schizophrenia Aplasia/Hypoplasia of the cerebellum Scoliosis Vestibular dysfunction Scotoma Iris hypopigmentation Hemianopia Abnormality of dental color Mild hearing impairment Abnormality of the inner ear Facial myokymia



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