Dysarthria, and Progressive hearing impairment

Diseases related with Dysarthria and Progressive hearing impairment

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

Top matches:

Related symptoms:

  • Intellectual disability
  • Short stature
  • Hearing impairment
  • Ataxia
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about POLYENDOCRINE-POLYNEUROPATHY SYNDROME

Cerebellar ataxia - areflexia - pes cavus - optic atrophy - sensorineural hearing loss (CAPOS syndrome) is a rare autosomal dominant neurological disorder characterized by early onset cerebellar ataxia, associated with areflexia, progressive optic atrophy, sensorineural deafness, a pes cavus deformity, and abnormal eye movements.

CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME Is also known as capos syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about CEREBELLAR ATAXIA-AREFLEXIA-PES CAVUS-OPTIC ATROPHY-SENSORINEURAL HEARING LOSS SYNDROME

Spinocerebellar ataxia type 36 (SCA36) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term) characterized by gait and limb ataxia, lower limb spasticity, dysarthria, muscle fasiculations, tongue atrophy and hyperreflexia.

SPINOCEREBELLAR ATAXIA TYPE 36 Is also known as sca36|asidan

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Spasticity
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 36

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

PCNA-related progressive neurodegenerative photosensitivity syndrome is a rare neurodegenerative disease caused by homozygous mutations in the PCNA gene and characterized by neurodegeneration, postnatal growth retardation, prelingual sensorineural hearing loss, premature aging, ocular and cutaneous telangiectasia, learning difficulties, photophobia, and photosensitivity with evidence of predisposition to sun-induced malignancy. Progressive neurologic deterioration leads to gait disturbances, muscle weakness, speech and swallowing difficulties and progressive cognitive decline.

Related symptoms:

  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about PCNA-RELATED PROGRESSIVE NEURODEGENERATIVE PHOTOSENSITIVITY SYNDROME

X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5 Is also known as cmt5x|cmtx5|optic atrophy, polyneuropathy, and deafness|rosenberg-chutorian syndrome|charcot-marie-tooth neuropathy, x-linked recessive, 5

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5

Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.

RIBOFLAVIN TRANSPORTER DEFICIENCY Is also known as sensorineural hearing loss-pontobulbar palsy syndrome|brown-vialetto-van laere syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about RIBOFLAVIN TRANSPORTER DEFICIENCY

Maternally inherited diabetes and deafness (MIDD) is a mitochondrial disorder characterized by maternally transmitted diabetes and sensorineural deafness.

MATERNALLY-INHERITED DIABETES AND DEAFNESS Is also known as ballinger-wallace syndrome|diabetes-deafness syndrome, maternally transmitted|mitochondrial diabetes|noninsulin-dependent diabetes mellitus with deafness|niddm with deafness|diabetes mellitus, type ii, with deafness|midd

Related symptoms:

  • Intellectual disability
  • Seizures
  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MATERNALLY-INHERITED DIABETES AND DEAFNESS

Tay-Sachs disease is an autosomal recessive, progressive neurodegenerative disorder which, in the classic infantile form, is usually fatal by age 2 or 3 years.

TAY-SACHS DISEASE; TSD Is also known as b variant gm2-gangliosidosis|gm2-gangliosidosis, type i|hexosaminidase a deficiency|hexa deficiency

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about TAY-SACHS DISEASE; TSD

Top 5 symptoms//phenotypes associated to Dysarthria and Progressive hearing impairment

Symptoms // Phenotype % cases
Hearing impairment Very Common - Between 80% and 100% cases
Ataxia Very Common - Between 80% and 100% cases
Muscle weakness Common - Between 50% and 80% cases
Dysphagia Common - Between 50% and 80% cases
Optic atrophy Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Dysarthria and Progressive hearing impairment. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Pes cavus

Uncommon Symptoms - Between 30% and 50% cases

Peripheral neuropathy Visual impairment Progressive sensorineural hearing impairment Tremor Sensorineural hearing impairment Intellectual disability Gait ataxia Seizures Cerebellar atrophy Visual loss Dystonia Gait disturbance Skeletal muscle atrophy Incoordination Neurodegeneration Blindness Ptosis Spasticity Sensory neuropathy Nystagmus Generalized hypotonia Global developmental delay Mental deterioration Abnormality of eye movement Areflexia

Rare Symptoms - Less than 30% cases

Optic neuropathy Constriction of peripheral visual field Unsteady gait Dementia Fasciculations Amyotrophic lateral sclerosis Cerebral cortical atrophy Scoliosis Photophobia Reduced visual acuity Progressive muscle weakness Distal amyotrophy Cataract Paraparesis Ophthalmoplegia Hallucinations Limb muscle weakness Myoclonus Hypertension Excessive daytime somnolence Impaired pain sensation Skeletal muscle hypertrophy Language impairment Broad-based gait Kyphosis Bilateral sensorineural hearing impairment Optic disc pallor Sensory impairment Distal sensory impairment Short stature Lower limb muscle weakness Distal muscle weakness Pallor Rod-cone dystrophy Neuronal loss in central nervous system Falls Vertigo Hypertonia Dysmetria Motor delay Limb ataxia Truncal ataxia Polyneuropathy Hyperreflexia Progressive visual loss Hypogonadism Diabetes mellitus Difficulty walking Diabetes insipidus Macular dystrophy External ophthalmoplegia Ragged-red muscle fibers Aplasia/Hypoplasia of the cerebellum Hyperglycemia Bundle branch block Vestibular dysfunction Abnormal retinal morphology Cranial nerve paralysis Type II diabetes mellitus Glomerulopathy Retinal atrophy Abnormality of lipid metabolism Left bundle branch block Abnormal chorioretinal morphology Abnormal autonomic nervous system physiology Pancytopenia Pigmentary retinopathy Cachexia Renal insufficiency Abnormality of color vision Bulbar palsy Iris hypopigmentation Abnormal cranial nerve morphology Abnormality of macular pigmentation Cardiomyopathy Myopathy Congestive heart failure Arrhythmia Retinal degeneration Constipation Myalgia Proteinuria Sleep apnea Hypertrophic cardiomyopathy Behavioral abnormality Retinopathy Growth delay Malabsorption Abnormality of the kidney Rigidity Depressivity Exaggerated startle response Spinal muscular atrophy Personality changes Oral-pharyngeal dysphagia Muscle fibrillation Loss of speech Proximal amyotrophy Action tremor Torsion dystonia Psychomotor deterioration Slurred speech Paranoia Mood changes Decerebrate rigidity Psychotic episodes Abnormal anterior horn cell morphology Cherry red spot of the macula Therapeutic abortion Internuclear ophthalmoplegia GM2-ganglioside accumulation Apathy Poor head control Respiratory failure Memory impairment Proximal muscle weakness Developmental regression Irritability Paralysis Confusion Muscle cramps Abnormal cerebellum morphology Generalized muscle weakness Urinary incontinence Psychosis Hyperkinesis Choreoathetosis Clumsiness Involuntary movements Aspiration Foot dorsiflexor weakness Muscle stiffness EMG abnormality Hypercholesterolemia Melanoma Gynecomastia Respiratory insufficiency Cerebellar hypoplasia Torticollis Anarthria Episodic ataxia Motor deterioration Drowsiness Gliosis Cerebral visual impairment Abnormal electroretinogram Increased susceptibility to fractures Horizontal nystagmus Moderate hearing impairment Agammaglobulinemia Abnormal posturing Basal ganglia gliosis Postlingual sensorineural hearing impairment Microcephaly Flexion contracture Immunodeficiency Cutaneous photosensitivity Telangiectasia Hyperactivity Episodic generalized hypotonia Conjunctival telangiectasia Bowel incontinence Parkinsonism Migraine Intention tremor Lower limb spasticity Diplopia Babinski sign Dysdiadochokinesis Blurred vision Cerebellar vermis atrophy Myopia Hand tremor Impaired smooth pursuit Slow saccadic eye movements Head tremor Tongue fasciculations Olivopontocerebellar atrophy Tongue atrophy Loss of Purkinje cells in the cerebellar vermis Limb myoclonus Hemiparesis Bradykinesia Facial palsy Short thumb Hypothyroidism Areflexia of lower limbs Kinetic tremor Abnormal nerve conduction velocity Segmental peripheral demyelination/remyelination Pectus excavatum Abnormality of the foot Peripheral demyelination Joint contracture of the hand Hypoglycemia Thoracic scoliosis Ulnar deviation of the hand Abnormality of peripheral nerve conduction Positive Romberg sign Distal upper limb amyotrophy Muscular hypotonia Attention deficit hyperactivity disorder Hyporeflexia Aggressive behavior Congenital nystagmus Onion bulb formation Postural instability Cognitive impairment Elevated serum creatine phosphokinase Lethargy Autistic behavior Abnormality of the eye Paresthesia Peripheral axonal neuropathy Abnormality of the nervous system Encephalopathy Strabismus Macular atrophy Central hypothyroidism Glucose intolerance Type I diabetes mellitus Frequent falls Sensorimotor neuropathy Abnormal pyramidal sign Postnatal growth retardation Intellectual disability, moderate Mildly elevated creatine phosphokinase Zebra bodies


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