Dysarthria, and Myopia

Diseases related with Dysarthria and Myopia

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

Top matches:

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

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

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

Other less relevant matches:

Mohr-Tranebjaerg syndrome (MTS) is an X-linked recessive neurodegenerative syndrome characterized by clinical manifestations commencing with early childhood onset hearing loss, followed by adolescent onset progressive dystonia or ataxia, visual impairment from early adulthood onwards and dementia from the 4th decade onwards.

MOHR-TRANEBJAERG SYNDROME Is also known as deafness syndrome, progressive, with blindness, dystonia, fractures, and mental deficiency|deafness-dystonia-optic atrophy syndrome|deafness-dystonia-optic neuronopathy syndrome|dystonia-deafness syndrome|ddon syndrome|opticoacoustic nerve atrophy with de

Related symptoms:

  • Intellectual disability
  • Hearing impairment
  • Sensorineural hearing impairment
  • Spasticity
  • Visual impairment


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about MOHR-TRANEBJAERG SYNDROME

TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME Is also known as tach syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Ataxia
  • Nystagmus
  • Spasticity


SOURCES: ORPHANET MENDELIAN

More info about TREMOR-ATAXIA-CENTRAL HYPOMYELINATION SYNDROME

Sjögren-Larsson syndrome (SLS) is a neurocutaneous disorder caused by an inborn error of lipid metabolism and characterized by congenital ichthyosis, intellectual deficit, and spasticity.

SJÖGREN-LARSSON SYNDROME Is also known as fatty acid alcohol oxidoreductase deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Microcephaly
  • Scoliosis


SOURCES: ORPHANET MENDELIAN

More info about SJÖGREN-LARSSON SYNDROME

Medium match BEHR SYNDROME; BEHRS

'Behr syndrome' is a clinical term that refers to the constellation of early-onset optic atrophy accompanied by neurologic features, including ataxia, pyramidal signs, spasticity, and mental retardation (Behr, 1909; Thomas et al., 1984).Patients with mutations in genes other than OPA1 can present with clinical features reminiscent of Behr syndrome. Mutations in one of these genes, OPA3 (OMIM ), result in type III 3-methylglutaconic aciduria (MGCA3 ). Lerman-Sagie (1995) noted that the abnormal urinary pattern in MGCA3 may not be picked up by routine organic acid analysis, suggesting that early reports of Behr syndrome with normal metabolic features may actually have been 3-methylglutaconic aciduria type III.

BEHR SYNDROME; BEHRS Is also known as optic atrophy, infantile hereditary, with neurologic abnormalities

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about BEHR SYNDROME; BEHRS

Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome is a rare, genetic, neurological disorder characterized by early-onset, progressive ataxia, white matter hypomyelination and cerebellar atrophy on brain MRI imaging, and various dental abnormalities, including hypodontia, delayed primary tooth eruption, complete retention of the primary maxillary central incisors and abnormal shape of the permanent maxillary incisors.

HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME Is also known as 4h syndrome|leukodystrophy, hypomyelinating, with hypodontia and hypogonadotropic hypogonadism|leukoencephalopathy, hypomyelinating, with ataxia and delayed dentition|ataxia, delayed dentition, and hypomyelination|ataxia-delayed dentition-hypomyelination

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about HYPOMYELINATING LEUKODYSTROPHY-ATAXIA-HYPODONTIA-HYPOMYELINATION SYNDROME

Spastic paraplegia-severe developmental delay-epilepsy syndrome is a rare, genetic, complex spastic paraplegia disorder characterized by an infantile-onset of psychomotor developmental delay with severe intellectual disability and poor speech acquisition, associated with seizures (mostly myoclonic), muscular hypotonia which may be noted at birth, and slowly progressive spasticity in the lower limbs leading to severe gait disturbances. Ocular abnormalities and incontinence are commonly associated. Other symptoms may include verbal dyspraxia, hypogenitalism, macrocephaly and sensorineural hearing loss, as well as dystonic movements and ataxia with upper limb involvement.

SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME Is also known as spastic paraplegia-psychomotor retardation-seizures syndrome|spprs syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA-SEVERE DEVELOPMENTAL DELAY-EPILEPSY SYNDROME

Autosomal dominant spastic paraplegia-9A is a neurologic disorder characterized by onset of slowly progressive spasticity mainly affecting the lower limbs. The age at onset usually ranges from adolescence to adulthood, and patients have gait difficulties, motor neuropathy, and dysarthria. Additional variable features include cerebellar signs, cataract, pes cavus, and urinary urgency (summary by Coutelier et al., 2015).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A Is also known as spastic paraparesis with amyotrophy, cataracts, and gastroesophageal reflux|cataracts with motor neuronopathy, short stature, and skeletal abnormalities

Related symptoms:

  • Global developmental delay
  • Short stature
  • Nystagmus
  • Muscle weakness
  • Cataract


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SPASTIC PARAPLEGIA 9A, AUTOSOMAL DOMINANT; SPG9A

Top 5 symptoms//phenotypes associated to Dysarthria and Myopia

Symptoms // Phenotype % cases
Spasticity Very Common - Between 80% and 100% cases
Intellectual disability Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Nystagmus

Uncommon Symptoms - Between 30% and 50% cases

Babinski sign

Common Symptoms - More than 50% cases

Short stature

Uncommon Symptoms - Between 30% and 50% cases

Seizures

Common Symptoms - More than 50% cases

Optic atrophy

Uncommon Symptoms - Between 30% and 50% cases

Peripheral neuropathy Generalized hypotonia Dystonia Dysmetria Gait ataxia Abnormal cerebellum morphology Tremor Dysphagia Cerebellar atrophy Intention tremor Leukodystrophy Hearing impairment Progressive spasticity Hypoplasia of the corpus callosum CNS hypomyelination Sensorineural hearing impairment Delayed eruption of teeth Hypodontia Hypogonadotrophic hypogonadism Dysdiadochokinesis Oligodontia Cerebral cortical atrophy Abnormal pyramidal sign Cognitive impairment Motor delay

Rare Symptoms - Less than 30% cases

Congenital nystagmus Spastic paraparesis Peripheral demyelination Muscular hypotonia of the trunk Cerebral atrophy Dementia Spastic paraplegia Mental deterioration Photophobia Microcephaly Paraplegia Abnormal upper motor neuron morphology Pes cavus Gait disturbance Kyphosis Muscular hypotonia Scoliosis Urinary incontinence Lower limb spasticity Postural tremor Delayed puberty Developmental regression Deeply set eye Neuronal loss in central nervous system Gliosis Abnormality of the skeletal system Drooling Upper motor neuron dysfunction Hypogonadism Motor deterioration Inability to walk Falls Frequent falls Visual impairment Poor speech Unsteady gait Cerebral visual impairment Intellectual disability, mild Delayed speech and language development Cerebral hypomyelination Hypertelorism Cerebellar hypoplasia Flexion contracture Abnormality of the foot Retinal dystrophy Hip dislocation Downturned corners of mouth Difficulty walking Obesity Generalized myoclonic seizures Talipes equinovarus Delayed myelination Wide nasal bridge Generalized tonic-clonic seizures Hypertonia Macrocephaly Progressive cerebellar ataxia Rimmed vacuoles Achilles tendon contracture 3-Methylglutaconic aciduria Hamstring contractures Adductor longus contractures Ventriculomegaly Abnormality of the dentition Focal-onset seizure Strabismus High myopia Reduced number of teeth Focal impaired awareness seizure Natal tooth Foam cells Hypometric saccades Anteverted nares Abnormal facial shape Broad-based gait Waddling gait Impaired vibratory sensation Delayed skeletal maturation Gastroesophageal reflux Lower limb muscle weakness Specific learning disability Paraparesis Abnormality of pelvic girdle bone morphology Urinary urgency Hernia Generalized amyotrophy Hiatus hernia Short 5th finger Motor polyneuropathy Carpal bone hypoplasia Shallow acetabular fossae Chorioretinal dystrophy Clinodactyly Vomiting Lumbar hyperlordosis Puberty and gonadal disorders Tetraparesis Abnormality of mitochondrial metabolism Fasciculations Progressive spastic paraplegia Overweight Cerebral white matter atrophy Structural foot deformity Skeletal muscle atrophy Exophoria Delayed peripheral myelination Abnormality of the musculature of the lower limbs Absent pubertal growth spurt Focal myoclonic seizures Muscle weakness Cataract Axonal degeneration Paralysis Ragged-red muscle fibers Agammaglobulinemia Infantile muscular hypotonia Abnormal electroretinogram Increased susceptibility to fractures Constriction of peripheral visual field Progressive sensorineural hearing impairment Optic neuropathy Abnormal posturing Reduced visual acuity Basal ganglia gliosis Postlingual sensorineural hearing impairment Status epilepticus Apraxia Narrow forehead Clumsiness Brisk reflexes Hyperactivity Hip dysplasia Choreoathetosis Rigidity Impaired horizontal smooth pursuit Intellectual disability, moderate Facial palsy Sensory neuropathy Delayed eruption of primary teeth Decreased motor nerve conduction velocity Visual loss Sensory axonal neuropathy Pendular nystagmus Rotary nystagmus Head titubation Demyelinating motor neuropathy Horizontal nystagmus Blindness Generalized-onset seizure Impaired vibration sensation in the lower limbs Sensorimotor neuropathy Corneal erosion Abnormality of retinal pigmentation Abnormality of dental enamel Macular degeneration Urticaria Spastic diplegia Generalized hyperpigmentation Inflammatory abnormality of the eye Dry skin Prominent forehead Myopathy Aciduria Progressive visual loss Bilateral sensorineural hearing impairment Spastic gait Ichthyosis Neurological speech impairment Spastic dysarthria Focal seizures, afebril Abnormality of the basal ganglia Positive Romberg sign Vertical supranuclear gaze palsy Abnormality of ocular smooth pursuit Autonomic bladder dysfunction Impaired distal proprioception High myoinositol in brain by MRS Osteoporosis EEG abnormality Osteopenia Hyperkeratosis Skeletal dysplasia Erythema Joint stiffness Retinopathy Dysfunction of lateral corticospinal tracts


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