Hearing impairment, and Spasticity

Diseases related with Hearing impairment and Spasticity

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

Top matches:

Foetal methylmercury syndrome is characterised by a group of symptoms that may be observed in a foetus or newborn when the mother was exposed during pregnancy to excessive amounts of methylmercury.

FETAL METHYLMERCURY SYNDROME Is also known as methyl mercury antenatal infection|minamata disease

Related symptoms:

  • Short stature
  • Hearing impairment
  • Microcephaly
  • Muscular hypotonia
  • Visual impairment


SOURCES: MESH ORPHANET MENDELIAN

More info about FETAL METHYLMERCURY SYNDROME

Other less relevant matches:

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 24 Is also known as spg24

Related symptoms:

  • Sensorineural hearing impairment
  • Spasticity
  • Hyperreflexia
  • Spastic paraplegia
  • Clonus


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 24

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

Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 27 Is also known as spg27

Related symptoms:

  • Sensorineural hearing impairment
  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Babinski sign


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 27

ADan amyloidosis is a rare, neurodegenerative disease characterized by progressive cataracts, hearing loss, cerebellar ataxia, paranoid psychosis and dementia. Neuropathological features are diffuse atrophy of all parts of the brain, chronic diffuse encephalopathy and the presence of extremely thin and almost completely demyelinated cranial nerves.

ADAN AMYLOIDOSIS Is also known as heredopathia ophthalmootoencephalica|dementia, familial danish|hooe|cerebellar ataxia, cataract, deafness, and dementia or psychosis|familial dementia, danish type|fdd|familial danish dementia

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Cataract
  • Spasticity
  • Tremor


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about ADAN AMYLOIDOSIS

Low match IMINOGLYCINURIA

Iminoglycinuria is a metabolic disorder resulting from defective renal tube reabsorption of proline, hydroxyproline and glycine. The prevalence is estimated at around 1 in 15 000. The disorder is usually asymptomatic and is identified fortuitously by detection of increased levels of the imino acids and glycine in the urine. It is transmitted as an autosomal recessive trait.

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Hearing impairment
  • Spasticity
  • Blindness


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about IMINOGLYCINURIA

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

Top 5 symptoms//phenotypes associated to Hearing impairment and Spasticity

Symptoms // Phenotype % cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Encephalopathy Rare - less than 30% cases
Global developmental delay Rare - less than 30% cases
Tremor Rare - less than 30% cases

Other less frequent symptoms

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

Rare Symptoms - Less than 30% cases

Ataxia Dysarthria Generalized hypotonia Babinski sign Visual impairment Spastic paraplegia Limb ataxia Hyperglycinuria Abnormality of the eye Severe global developmental delay Aciduria Nephrolithiasis Hyperactive deep tendon reflexes Brisk reflexes Hypophosphatemia Progressive encephalopathy Cystinuria Prolinuria Hydroxyprolinuria Bilateral sensorineural hearing impairment Hyperornithinemia Nystagmus Peripheral neuropathy Cerebellar atrophy Intellectual disability Hyporeflexia Gait ataxia Sensory neuropathy Impaired vibratory sensation Truncal ataxia Blindness Short stature Cerebral amyloid angiopathy Lower limb spasticity Microcephaly Muscular hypotonia Clonus Difficulty standing Tip-toe gait Scissor gait Neonatal hypotonia Retinal dystrophy Decreased liver function Paraplegia Paraparesis Posterior polar cataract Spastic paraparesis Dysdiadochokinesis Lower limb hyperreflexia Impaired vibration sensation at ankles Spastic/hyperactive bladder Abnormality of somatosensory evoked potentials Cataract Dementia Psychosis Intention tremor Neurofibrillary tangles Gaze-evoked horizontal 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 Single transverse palmar crease, related diseases and genetic alterations Brachydactyly and Tapered finger, related diseases and genetic alterations Lymphoma and Dystonia, related diseases and genetic alterations Pain and Anxiety, related diseases and genetic alterations Obesity and Acidosis, related diseases and genetic alterations Flexion contracture and Thick eyebrow, related diseases and genetic alterations