Generalized hypotonia, and Sensorineural hearing impairment

Diseases related with Generalized hypotonia and Sensorineural hearing impairment

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

Top matches:

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 PEX26 gene have cells of complementation group 8 (CG8, equivalent to CGA). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Visual impairment


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 7B; PBD7B

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

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 36; COXPD36

Other less relevant matches:

Bartter syndrome refers to a group of disorders that are unified by autosomal recessive transmission of impaired salt reabsorption in the thick ascending loop of Henle with pronounced salt wasting, hypokalemic metabolic alkalosis, and hypercalciuria. Clinical disease results from defective renal reabsorption of sodium chloride in the thick ascending limb (TAL) of the Henle loop, where 30% of filtered salt is normally reabsorbed (Simon et al., 1997).Patients with antenatal (or neonatal) forms of Bartter syndrome (e.g., BARTS1, {601678}) typically present with premature birth associated with polyhydramnios and low birth weight and may develop life-threatening dehydration in the neonatal period. Patients with classic Bartter syndrome present later in life and may be sporadically asymptomatic or mildly symptomatic (summary by Simon et al., 1996 and Fremont and Chan, 2012).For a discussion of genetic heterogeneity of Bartter syndrome, see {607364}.

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Failure to thrive
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about BARTTER SYNDROME, TYPE 4B, NEONATAL, WITH SENSORINEURAL DEAFNESS; BARTS4B

Medium match FAZIO-LONDE DISEASE

Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency (summary by Bosch et al., 2011).

FAZIO-LONDE DISEASE Is also known as bulbar palsy, progressive, of childhood

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about FAZIO-LONDE DISEASE

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Feeding difficulties
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly


SOURCES: MESH OMIM MENDELIAN

More info about MICROCEPHALY 3, PRIMARY, AUTOSOMAL RECESSIVE; MCPH3

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 PEX13 gene have cells of complementation group 13 (CG13, equivalent to CGH). For information on the history of PBD complementation groups, see {214100}.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about PEROXISOME BIOGENESIS DISORDER 11B; PBD11B

Epimerase-deficiency galactosemia was originally described as a benign condition in which GALE impairment is restricted to circulating red and white blood cells (Gitzelmann, 1972). Fibroblasts, liver, phytohemagglutinin-stimulated leukocyes, and Epstein Barr virus-transformed lymphoblasts from these patients all demonstrated normal or near-normal levels of GALE, leading to the designation 'peripheral' (or 'isolated') epimerase deficiency. A second form of epimerase deficiency became apparent in which a patient, despite normal GALT activity, presented with symptoms reminiscent of classic galactosemia and demonstrated severely impaired GALE activity in both red blood cells and fibroblasts (Holton et al., 1981). This form was designated 'generalized' epimerase deficiency. Openo et al. (2006) demonstrated that epimerase deficiency is in fact not a binary condition but is, rather, a continuum disorder.GALE encodes the third enzyme in the Leloir pathway of galactose metabolism. Galactosemia I is classic galactosemia (OMIM ), caused by deficiency of the second enzyme in the Leloir pathway, galactose-1-phosphate uridylyl-transferase (GALT ). Galactosemia II (OMIM ) is caused by deficiency of the first enzyme in the Leloir pathway, galactokinase (GALK ).

GALACTOSE EPIMERASE DEFICIENCY Is also known as udp-galactose-4-epimerase deficiency|gale deficiency|galactosemia iii

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about GALACTOSE EPIMERASE DEFICIENCY

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

Symptoms // Phenotype % cases
Hearing impairment Common - Between 50% and 80% cases
Global developmental delay Uncommon - Between 30% and 50% cases
Intellectual disability Uncommon - Between 30% and 50% cases
Delayed speech and language development Uncommon - Between 30% and 50% cases
Feeding difficulties Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Muscular hypotonia Failure to thrive

Rare Symptoms - Less than 30% cases

Cataract Growth delay Aciduria Muscle weakness Visual impairment Short stature Hyperreflexia Progressive muscle weakness Decreased liver function Retinal dystrophy Hyporeflexia Breech presentation Caesarian section Weak cry Profound global developmental delay Neurodevelopmental delay Opisthotonus Retinal degeneration Feeding difficulties in infancy Cardiomyopathy Abnormality of the eye Apnea Muscular hypotonia of the trunk Hypertrophic cardiomyopathy Hypertonia Optic atrophy Skeletal muscle atrophy Progressive inspiratory stridor Generalized hyperreflexia Diaphragmatic weakness Inspiratory stridor Diaphragmatic paralysis Axial muscle weakness Facial diplegia Microcephaly Prominent nose Behavioral abnormality Central hypotonia Galactosuria Hypergalactosemia Delayed gross motor development Aminoaciduria Nausea and vomiting Jaundice Weight loss Splenomegaly Vomiting Intellectual disability, severe Hepatomegaly Hearing abnormality Inverted nipples Proptosis Respiratory tract infection Hepatosplenomegaly Visual loss Small cerebral cortex Severe sensorineural hearing impairment Cortical gyral simplification Widely spaced teeth Progressive microcephaly Cafe-au-lait spot Sloping forehead Amyotrophic lateral sclerosis Intellectual disability, moderate Aggressive behavior Bulbar palsy Dysphagia Oral-pharyngeal dysphagia Truncal ataxia Abnormality of mitochondrial metabolism Exercise intolerance Poor speech Hypoglycemia Upslanted palpebral fissure Headache Low-set ears Strabismus Gaze-evoked horizontal nystagmus Hyperactive deep tendon reflexes Brisk reflexes Impaired vibratory sensation Limb ataxia Edema Bilateral sensorineural hearing impairment Sensory neuropathy Gait ataxia Babinski sign Cerebellar atrophy Tremor Dysarthria Peripheral neuropathy Spasticity Nystagmus Ataxia Neonatal hypotonia Motor delay Renal insufficiency Stridor Hypokalemic metabolic alkalosis Bilateral ptosis Generalized muscle weakness Paralysis Facial palsy Respiratory insufficiency Ptosis Hypokalemic hypochloremic metabolic alkalosis Hyperchloriduria Fetal polyuria Hypochloremia Increased urinary potassium Hypernatriuria Decreased glomerular filtration rate Abnormality of metabolism/homeostasis Metabolic alkalosis Alkalosis Renal salt wasting Hyperaldosteronism Polyuria Hyponatremia Hypercalciuria Hypokalemia Dehydration Premature birth Small for gestational age Polyhydramnios Impairment of galactose metabolism


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