Generalized hypotonia, and Bilateral sensorineural hearing impairment

Diseases related with Generalized hypotonia and Bilateral sensorineural hearing impairment

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

Top matches:

Spinocerebellar ataxia type 31 (SCA31) is a very rare subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by the late-onset of cerebral ataxia, dysarthria and horizontal gaze nystagmus, and that is occasionally accompanied by pyramidal signs, tremor, decreased vibration sense and hearing difficulties.

SPINOCEREBELLAR ATAXIA TYPE 31 Is also known as sca31|spinocerebellar ataxia, 16q22-linked

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 31

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.

SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME Is also known as hereditary myoclonus-progressive distal muscular atrophy syndrome|jankovic-rivera syndrome|myoclonus, hereditary, with progressive distal muscular atrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY 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

Other less relevant matches:

'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

METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM Is also known as arylsulfatase a deficiency, juvenile form|mld, juvenile form

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Dysarthria


SOURCES: ORPHANET MENDELIAN

More info about METACHROMATIC LEUKODYSTROPHY, JUVENILE FORM

Waardenburg syndrome type 2 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the inner canthus of each eye, which is seen in some other forms of WS (review by Read and Newton, 1997). Individuals with WS type 2E, which is caused by mutation in the SOX10 gene (OMIM ), may have neurologic abnormalities, including mental impairment, myelination defects, and ataxia. Waardenburg syndrome type 2 is genetically heterogeneous (see WS2A; {193510}).For a description of other clinical variants of Waardenburg syndrome, see WS1 (OMIM ), WS3 (OMIM ), and WS4 (OMIM ).

WAARDENBURG SYNDROME, TYPE 2E; WS2E Is also known as hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation|waardenburg syndrome, type 2e, with or without neurologic involvement|ws2e, with or without neurologic involvement|waardenburg syndrome, type iie

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about WAARDENBURG SYNDROME, TYPE 2E; WS2E

Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is an autosomal recessive disorder with congenital muscular dystrophy resulting in muscle weakness early in life and brain and eye anomalies. It is usually associated with delayed psychomotor development and shortened life expectancy. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as dystroglycanopathies (summary by Stevens et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12 Is also known as walker-warburg syndrome or muscle-eye-brain disease, pomk-related

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12; MDDGA12

FG syndrome-4 is an X-linked recessive mental retardation syndrome characterized by congenital hypotonia, constipation, behavioral disturbances, and dysmorphic features (summary by Piluso et al., 2003).The name 'FG' derives from the first description of the disorder (FGS1 ) by Opitz and Kaveggia (1974), who named it 'FG syndrome' according to the Opitz system of using initials of patients' surnames. For a phenotypic description and a discussion of genetic heterogeneity of FG syndrome, see FGS1 (OMIM ).FGS4 is typically associated with missense or hypomorphic mutations in the CASK gene. See also the more severe disorder MICPCH (OMIM ), an allelic disorder caused by complete loss-of-function mutations in the CASK gene (Tarpey et al., 2009).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about FG SYNDROME 4; FGS4

A condition with multiple abnormalities including mild to severe intellectual disability, impaired growth from birth leading to short stature, and microcephaly. Affected individuals may also have distinctive facial features (including a small forehead, a short nose, a small lower jaw, a flat area between the nose and mouth (philtrum), and prominent cheeks), sensorineural hearing loss, and heart malformations

WARSAW BREAKAGE SYNDROME Is also known as wabs

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about WARSAW BREAKAGE SYNDROME

Brown-Vialetto-Van Laere syndrome-2 is an autosomal recessive progressive neurologic disorder characterized by early childhood onset of sensorineural deafness, bulbar dysfunction, and severe diffuse muscle weakness and wasting of the upper and lower limbs and axial muscles, resulting in respiratory insufficiency. Some patients may lose independent ambulation. Because it results from a defect in riboflavin metabolism, some patients may benefit from high-dose riboflavin supplementation (summary by Johnson et al., 2012; Foley et al., 2014).For discussion of genetic heterogeneity of Brown-Vialetto-Van Laere syndrome, see BVVLS1 (OMIM ).

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus


SOURCES: OMIM MENDELIAN

More info about BROWN-VIALETTO-VAN LAERE SYNDROME 2; BVVLS2

Top 5 symptoms//phenotypes associated to Generalized hypotonia and Bilateral sensorineural hearing impairment

Symptoms // Phenotype % cases
Sensorineural hearing impairment Very Common - Between 80% and 100% cases
Hearing impairment Very Common - Between 80% and 100% cases
Nystagmus Common - Between 50% and 80% cases
Global developmental delay Common - Between 50% and 80% cases
Muscle weakness Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Generalized hypotonia and Bilateral sensorineural hearing impairment. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Reduced visual acuity Ataxia Scoliosis Seizures Tremor Frequent falls Babinski sign Optic atrophy Dysarthria Intellectual disability Peripheral neuropathy Microcephaly Pes cavus Areflexia Sensorimotor neuropathy Falls Gait disturbance Spasticity Hyperreflexia Cerebellar atrophy Gait ataxia Sensory neuropathy

Rare Symptoms - Less than 30% cases

Visual loss Cerebellar hypoplasia Tongue fasciculations Strabismus Cataract Motor delay Kyphosis Congenital nystagmus Hypoventilation Dysphagia Neonatal hypotonia Distal muscle weakness Coloboma Myopia Progressive visual loss Clumsiness Flexion contracture Aggressive behavior Short neck Elevated serum creatine phosphokinase Generalized amyotrophy Respiratory insufficiency due to muscle weakness Visual impairment Hyporeflexia CNS hypomyelination Respiratory insufficiency Dementia Facial palsy Wide nasal bridge Unsteady gait Muscular hypotonia of the trunk Abnormal facial shape Fasciculations Macrocephaly Type II lissencephaly Congenital muscular dystrophy Hypoplasia of the brainstem Occipital encephalocele White hair Abnormally large globe Generalized hypopigmentation Retinal coloboma Misalignment of teeth Cortical cataract Agyria Arnold-Chiari malformation Heterochromia iridis Blue irides Ocular albinism Short stature Hypertelorism Micrognathia Hydrocephalus Poor head control Glaucoma Agenesis of corpus callosum Feeding difficulties Dilated vestibule of the inner ear Aplasia of the semicircular canal Hypoplasia of the semicircular canal White eyebrow Polyhydramnios White eyelashes Cerebral hypomyelination Hypopigmentation of the fundus Muscular dystrophy Progressive microcephaly Severe global developmental delay Poor speech Retinal degeneration High myopia Cerebellar vermis hypoplasia Ventriculomegaly Encephalocele White forelock Microphthalmia Lissencephaly Epicanthus Depressed nasal bridge Cyanosis Cutis marmorata 2-3 toe syndactyly Chromosome breakage Optic nerve coloboma Small face Premature chromatid separation Hypoplasia of the cochlea Respiratory distress Respiratory failure Dyspnea Kyphoscoliosis Limb muscle weakness Split hand Sloping forehead Foot dorsiflexor weakness Exercise intolerance Dysphonia Sensory axonal neuropathy Hypokinesia Bulbar palsy Neck muscle weakness Hearing abnormality Facial paralysis Organic aciduria Decreased plasma carnitine Axial muscle weakness Cupped ear Tetralogy of Fallot Behavioral abnormality Frontal upsweep of hair Intellectual disability, mild Long philtrum Midface retrusion Constipation Prominent forehead Upslanted palpebral fissure Hyperactivity Feeding difficulties in infancy Intellectual disability, profound Open mouth Pachygyria Relative macrocephaly Growth delay Single transverse palmar crease High palate Severe sensorineural hearing impairment Intrauterine growth retardation Ventricular septal defect Congestive heart failure Short nose Syndactyly Clinodactyly Postnatal growth retardation Wide mouth Smooth philtrum Abnormality of skin pigmentation Hypoplasia of the iris Decerebrate rigidity Premature graying of hair Progressive hearing impairment Pallor Lower limb muscle weakness Paresthesia Peripheral axonal neuropathy Distal amyotrophy Distal sensory impairment Polyneuropathy Sensory impairment Optic disc pallor Broad-based gait Paraparesis Language impairment Progressive distal muscular atrophy Skeletal muscle hypertrophy Mildly elevated creatine phosphokinase Macular atrophy Onion bulb formation Impaired pain sensation Optic neuropathy Excessive daytime somnolence Areflexia of lower limbs Kinetic tremor Abnormal nerve conduction velocity Segmental peripheral demyelination/remyelination Myopathy Rod-cone dystrophy Degeneration of anterior horn cells Abnormal pyramidal sign EEG abnormality Limb ataxia Truncal ataxia Impaired vibratory sensation Brisk reflexes Hyperactive deep tendon reflexes Gaze-evoked horizontal nystagmus Skeletal muscle atrophy Pneumonia Recurrent respiratory infections Myoclonus Difficulty walking Proximal muscle weakness Atonic seizures Hyperlordosis Respiratory tract infection Neurological speech impairment Generalized myoclonic seizures Generalized-onset seizure Progressive muscle weakness EMG abnormality Absence seizures Spinal muscular atrophy Gowers sign Oral-pharyngeal dysphagia Loss of consciousness Paralysis Dysmetria Albinism Hypertonia Short attention span Vegetative state Progressive peripheral neuropathy Cholecystitis EMG: chronic denervation signs Progressive psychomotor deterioration Abnormal social behavior Abnormality of glycosphingolipid metabolism Punctate periventricular T2 hyperintense foci Abnormality of proteoglycan metabolism Cognitive impairment Abnormality of the dentition Delusions Dilatation Pectus excavatum Autism Abnormality of the nervous system Telecanthus Delayed eruption of teeth Hypopigmentation of the skin Aganglionic megacolon Cafe-au-lait spot Hypopigmented skin patches Anosmia Congenital sensorineural hearing impairment Progressive gait ataxia Increased CSF protein Abnormal cerebellum morphology Upper motor neuron dysfunction Gliosis Aciduria Neuronal loss in central nervous system Spastic gait Ragged-red muscle fibers Dysdiadochokinesis Abnormality of mitochondrial metabolism Axonal degeneration Progressive spasticity Rimmed vacuoles Achilles tendon contracture 3-Methylglutaconic aciduria Abnormality of visual evoked potentials Hamstring contractures Adductor longus contractures Dystonia Developmental regression Abdominal distention Urinary incontinence Intention tremor Hallucinations Leukodystrophy Decreased nerve conduction velocity Emotional lability Loss of speech Vertical nystagmus


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Autism, related diseases and genetic alterations Melanoma and Poor speech, related diseases and genetic alterations Autoimmunity and Kyphosis, related diseases and genetic alterations Congestive heart failure and Congenital diaphragmatic hernia, related diseases and genetic alterations Muscle weakness and Mandibular prognathia, related diseases and genetic alterations