Hearing impairment, and Unsteady gait

Diseases related with Hearing impairment and Unsteady gait

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

Top matches:

This syndrome is characterized by the association of an axonal sensory and autonomic neuropathy with hearing loss.

X-LINKED HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY WITH DEAFNESS Is also known as x-linked hsan with deafness|x-linked auditory neuropathy with peripheral sensory neuropathy type 1|auditory neuropathy, x-linked, 1, with peripheral sensory neuropathy|aunx1

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Peripheral neuropathy
  • Areflexia
  • Unsteady gait


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about X-LINKED HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY WITH DEAFNESS

Childhood-onset neurodegeneration with ataxia, dystonia, and gaze palsy is an autosomal recessive progressive disorder characterized by onset of gait ataxia, cognitive decline, and gaze palsy in the first or second decades. Additional features include dysarthria, dystonia, and athetoid movements. Some patients may become wheelchair-bound as young adults (summary by Haack et al., 2016).

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Hyperreflexia


SOURCES: OMIM MENDELIAN

More info about NEURODEGENERATION WITH ATAXIA, DYSTONIA, AND GAZE PALSY, CHILDHOOD-ONSET; NADGP

Spinocerebellar ataxia type 37 (SCA37) is a subtype of autosomal dominant cerebellar ataxia type 1 (ADCA type 1; see this term), characterized by a cerebellar syndrome along with altered vertical eye movements.

SPINOCEREBELLAR ATAXIA TYPE 37 Is also known as sca37|spinocerebellar ataxia with altered vertical eye movements

Related symptoms:

  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment
  • Cognitive impairment
  • Dysarthria


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 37

Other less relevant matches:

AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D Is also known as ri-cmt type d

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Pain
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D

CMTDIG is an autosomal dominant neurologic disorder with a highly variable phenotype. Most affected individuals have onset in the first or second decades of slowly progressive distal motor weakness and atrophy, resulting in gait instability and distal upper limb impairment, as well as distal sensory impairment. More severely affected individuals may have pes cavus and claw hands and become wheelchair-bound, whereas other affected individuals have later onset with a milder disease course. Electrophysiologic studies tend to show median motor nerve conduction velocities (NCV) in the 'intermediate' range, between 25 and 45 m/s (summary by Berciano et al., 2017).In a review of intermediate CMT, Berciano et al. (2017) noted that advanced axonal degeneration may induce secondary demyelinating changes resulting in decreased NCV and attenuated compound muscle action potential (CMAP) in median nerve conduction studies. They thus suggested that testing the upper arm, axilla to elbow, may provide more accurate assessment of NCV and CMAP and reveal an intermediate phenotype (review by Berciano et al., 2017).For a discussion of genetic heterogeneity of CMTDI, see {606482}.

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE, DOMINANT INTERMEDIATE G; CMTDIG

Lichtenstein-Knorr syndrome is an autosomal recessive neurologic disorder characterized by postnatal onset of severe progressive sensorineural hearing loss and progressive cerebellar ataxia. Features usually develop in childhood or young adulthood (summary by Guissart et al., 2015).

PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME Is also known as scar19|progressive autosomal recessive ataxia-sensorineural hearing loss syndrome|lichtenstein-knorr syndrome|spinocerebellar ataxia, autosomal recessive 19

Related symptoms:

  • Seizures
  • Short stature
  • Hearing impairment
  • Ataxia
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE AUTOSOMAL RECESSIVE ATAXIA-DEAFNESS SYNDROME

Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by a childhood-onset of severe, progressive, demyelinating sensorimotor neuropathy manifesting with distal muscle weakness and atrophy, sensorineural hearing impairment leading to deafness (usually in third decade), severely reduced nerve conduction velocities, and skeletal, especially foot, deformities. Tongue atrophy has also been reported.

CHARCOT-MARIE-TOOTH DISEASE TYPE 4D Is also known as hmsnl|charcot-marie-tooth disease, demyelinating, autosomal recessive, type 4d|hmsn, lom type|neuropathy, hereditary motor and sensory, lom type|hmsn-lom|hereditary motor and sensory neuropathy, lom type|cmt4d|hmsn4d|charcot-marie-tooth neuropathy, type 4

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness
  • Motor delay
  • Peripheral neuropathy


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4D

Gordon Holmes syndrome is an autosomal recessive adult-onset neurodegenerative disorder characterized by progressive cognitive decline, dementia, and variable movement disorders, such as ataxia and chorea. The neurologic phenotype is associated with hypogonadotropic hypogonadism (summary by Santens et al., 2015).

GORDON HOLMES SYNDROME; GDHS Is also known as cahh|cerebellar ataxia and hypogonadotropic hypogonadism|luteinizing hormone-releasing hormone, deficiency of, with ataxia|lhrh deficiency and ataxia

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Dysarthria
  • Abnormality of the skeletal system
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about GORDON HOLMES SYNDROME; GDHS

Severe intellectual disability-progressive spastic diplegia syndrome is a rare, genetic, syndromic intellectual disability disorder characterized by intellectual disability, significant motor delay, severe speech impairment, early-onset truncal hypotonia with progressive distal hypertonia/spasticity, microcephaly, and behavioral anomalies (autistic features, aggression or auto-aggressive behavior, sleep disturbances). Variable facial dysmorphism includes broad nasal tip with small alae nasi, long and/or flat philtrum, thin upper lip vermillion. Visual impairment (strabismus, hyperopia, myopia) is commonly associated.

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about SEVERE INTELLECTUAL DISABILITY-PROGRESSIVE SPASTIC DIPLEGIA SYNDROME

The overlapping phenotypes of neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease (IRD) represent the milder manifestations of the Zellweger syndrome spectrum (ZSS) of peroxisome biogenesis disorders. The clinical course of patients with the NALD and IRD presentation is variable and may include developmental delay, hypotonia, liver dysfunction, sensorineural hearing loss, retinal dystrophy, and visual impairment. Children with the NALD presentation may reach their teens, and those with the IRD presentation may reach adulthood (summary by Waterham and Ebberink, 2012).For a complete phenotypic description and a discussion of genetic heterogeneity of PBD(NALD/IRD), see {601539}.Individuals with mutations in the PEX2 gene have cells of complementation group 5 (CG5, equivalent to CG10 and CGF). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 5B; PBD5B

Top 5 symptoms//phenotypes associated to Hearing impairment and Unsteady gait

Symptoms // Phenotype % cases
Ataxia Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Areflexia Common - Between 50% and 80% cases
Cerebellar atrophy Common - Between 50% and 80% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Hearing impairment and Unsteady gait. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Gait disturbance Dysmetria Nystagmus Hyporeflexia Pes cavus Sensorineural hearing impairment Dysdiadochokinesis Gait ataxia Muscle weakness Progressive cerebellar ataxia Tremor Distal sensory impairment Sensory impairment Motor delay Falls Distal muscle weakness Abnormality of the foot Generalized hypotonia Seizures Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases

Limb muscle weakness Distal amyotrophy Hypoplasia of the corpus callosum Global developmental delay Polyneuropathy Pneumonia Abnormal cerebellum morphology Proximal muscle weakness Steppage gait Onion bulb formation Aggressive behavior Split hand Spasticity Inability to walk Cerebral atrophy Peripheral demyelination Mental deterioration Frequent falls Sensory neuropathy Oculomotor apraxia Parkinsonism Limb ataxia Neurological speech impairment Apraxia Clumsiness Loss of speech Truncal ataxia Atrophy/Degeneration affecting the brainstem Aspiration pneumonia Inappropriate behavior Chorioretinal dystrophy Intellectual disability Microcephaly Oligomenorrhea Personality changes Brisk reflexes Impulsivity Hypogonadotrophic hypogonadism Aspiration Memory impairment Chorea Tinnitus Infertility Sensory axonal neuropathy Cerebral cortical atrophy Hypogonadism Dementia Abnormal speech discrimination Abnormality of metabolism/homeostasis Strabismus Posteriorly rotated ears Abnormal facial shape Rod-cone dystrophy Very long chain fatty acid accumulation Bronchiolitis Slow saccadic eye movements Difficulty running Gaze-evoked nystagmus Decreased liver function Broad-based gait Retinal dystrophy Joint laxity Neonatal hypotonia Visual impairment Behavioral abnormality Exudative vitreoretinopathy Spastic diplegia Narrow palate Progressive microcephaly Broad nasal tip Smooth philtrum Hypermetropia Thin upper lip vermilion Upslanted palpebral fissure Intraaxonal accumulation of curvilinear autofluorescent lipopigment storage material Long philtrum Abnormality of the skeletal system Abnormality of visual evoked potentials Talipes cavus equinovarus Cognitive impairment Neurodegeneration Lower limb muscle weakness Urinary incontinence Babinski sign Elevated serum creatine phosphokinase Myopathy Areflexia of lower limbs Athetosis Vertical supranuclear gaze palsy Foot dorsiflexor weakness Peripheral axonal neuropathy Postural instability Dysphagia Myoclonus Abnormality of eye movement Flexion contracture Pain Abnormal conjugate eye movement Limb dysmetria Diffuse cerebellar atrophy Scanning speech Cogwheel rigidity Cerebellar vermis atrophy Abnormal pyramidal sign Waddling gait Vitamin E deficiency Kyphoscoliosis Segmental peripheral demyelination/remyelination Abnormal auditory evoked potentials Horizontal nystagmus Axonal loss Decreased motor nerve conduction velocity Hammertoe Abnormality of the hand Decreased nerve conduction velocity CNS hypomyelination Talipes Glaucoma Dystonia Talipes equinovarus Loss of ability to walk Action tremor Vertigo Delayed puberty Abnormal middle ear reflexes Short stature Axonal degeneration Gowers sign Sensorimotor neuropathy Hyperreflexia Elevated levels of phytanic acid


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