Peripheral neuropathy, and EEG abnormality

Diseases related with Peripheral neuropathy and EEG abnormality

In the following list you will find some of the most common rare diseases related to Peripheral neuropathy and EEG abnormality that can help you solving undiagnosed cases.


Top matches:

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K


Autosomal dominant Charcot-Marie-Tooth disease, type 2K (CMT2K) is an axonal CMT peripheral sensorimotor polyneuropathy.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K Is also known as cmt2k

Related symptoms:

  • Motor delay
  • Skeletal muscle atrophy
  • Gait disturbance
  • Arrhythmia
  • Proximal muscle weakness


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2K

Low match AUTOSOMAL DOMINANT SLOWED NERVE CONDUCTION VELOCITY


Autosomal dominant slowed nerve conduction velocity is a hereditary demyelinating motor and sensory neuropathy characterized by slowed nerve conduction velocities, in the absence of clinically apparent neurological deficits, gait abnormalities or muscular atrophy, associated with a germline mutation in the ARGHEF10 gene.

Related symptoms:

  • Peripheral neuropathy
  • Areflexia
  • Pes cavus
  • Sensory neuropathy
  • Peripheral demyelination


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SLOWED NERVE CONDUCTION VELOCITY

Low match AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME


Autosomal dominant optic atrophy plus syndrome (ADOA plus) is a variant of autosomal dominant optic atrophy (ADOA; see this term) associating the typical optic atrophy with other extra-ocular manifestations such as sensorineural deafness, myopathy, chronic progressive external ophthalmoplegia, ataxia and peripheral neuropathy. More rarely, other manifestations have been associated with this condition, such as spastic paraplegia, multiple-sclerosis like illness.

AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME Is also known as doa+|optic atrophy-deafness-polyneuropathy-myopathy syndrome

Related symptoms:

  • Strabismus
  • Sensorineural hearing impairment
  • Visual impairment
  • Optic atrophy
  • Reduced tendon reflexes


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT OPTIC ATROPHY PLUS SYNDROME

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Other less relevant matches:

Low match DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9


DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9 Is also known as neurosensory nonsyndromic recessive deafness 9|nsrd9

Related symptoms:

  • Hearing impairment
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Fever
  • Poor speech


SOURCES: OMIM MENDELIAN

More info about DEAFNESS, AUTOSOMAL RECESSIVE 9; DFNB9

Low match AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1


Auditory neuropathy is a type of hearing loss defined by the preservation of cochlear outer hair cell function and abnormal or absent auditory brainstem responses. Auditory neuropathy may accompany peripheral neuropathy in a variety of dominant syndromes such as Charcot-Marie-Tooth disease (Satya-Murti et al., 1979) and has been observed in Friedreich ataxia (Satya-Murti et al., 1980). Auditory neuropathy unassociated with peripheral neuropathy most commonly occurs as a sporadic or recessive trait; see, for example, {601071}.

AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1 Is also known as auditory neuropathy, nonsyndromic dominant|nsdan

Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Peripheral neuropathy
  • Poor speech


SOURCES: OMIM MESH MENDELIAN

More info about AUDITORY NEUROPATHY, AUTOSOMAL DOMINANT, 1; AUNA1

Low match MORVAN SYNDROME


Morvan syndrome is a rare, life-threatening, acquired neurologic disease characterized by neuromyotonia, dysautonomia and encephalopathy with severe insomnia. Signs involving central (e.g. hallucinations, confusion, amnesia, myoclonus), autonomic (e.g. variations in blood pressure, hyperhidrosis) and peripheral (e.g. painful cramps, myokymia) hyperactivity, as well as systemic manifestations (such as weight loss, pruritus, fever), are reported. Thymoma is present in some cases.

MORVAN SYNDROME Is also known as limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome|morvan's fibrillary chorea

Related symptoms:

  • Decreased nerve conduction velocity
  • Anhidrosis
  • Painless fractures due to injury


SOURCES: ORPHANET MENDELIAN

More info about MORVAN SYNDROME

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 4B1


Charcot-Marie-Tooth disease type 4B1 (CMT4B1) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by an early childhood-onset of severe, demyelinating sensorimotor neuropathy, various degrees of complex myelin outfoldings seen on peripheral nerve biopsy, very slow, and often undetectable, nerve conduction velocities, and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, sensory loss, and frequent pes cavus). Other reported features include facial weakness, vocal cord paresis, respiratory difficulties, and skeletal deformities (e.g. chest deformities, claw hands, pes equinovarus).

CHARCOT-MARIE-TOOTH DISEASE TYPE 4B1 Is also known as cmt4b1|charcot-marie-tooth neuropathy, type 4b1|charcot-marie-tooth disease, type 4b|charcot-marie-tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4b1|cmt4b

Related symptoms:

  • Scoliosis
  • Motor delay
  • Peripheral neuropathy
  • Talipes equinovarus
  • Proximal muscle weakness


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 4B1

Low match AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2W


Charcot-Marie-Tooth disease type 2W is an autosomal dominant neurologic disorder characterized by a peripheral neuropathy mainly affecting the lower limbs and resulting in gait difficulties and distal sensory impairment, although most patients also have upper limb involvement. The age at onset is highly variable, ranging from childhood to late adulthood (summary by Safka Brozkova et al., 2015).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2W Is also known as autosomal dominant charcot-marie-tooth disease type 2 due to hars mutation|charcot-marie-tooth neuropathy, type 2w|charcot-marie-tooth disease, axonal, autosomal dominant, type 2w|cmt2w

Related symptoms:

  • Pain
  • Peripheral neuropathy
  • Gait disturbance
  • Pes cavus
  • Abnormality of the foot


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2W

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 27


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

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 42


Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 42 Is also known as spg42

Related symptoms:

  • Seizures
  • Muscle weakness
  • Hyperreflexia
  • Skeletal muscle atrophy
  • Babinski sign


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 42

Top 5 symptoms//phenotypes associated to Peripheral neuropathy and EEG abnormality

Symptoms // Phenotype % cases
Decreased nerve conduction velocity Uncommon - Between 30% and 50% cases
Sensorineural hearing impairment Uncommon - Between 30% and 50% cases
Distal sensory impairment Uncommon - Between 30% and 50% cases
Pes cavus Uncommon - Between 30% and 50% cases
Motor delay Rare - less than 30% cases
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Other less frequent symptoms

Patients with Peripheral neuropathy and EEG abnormality. may also develop some of the following symptoms:

Rare Symptoms - Less than 30% cases


Babinski sign Spastic paraplegia Lower limb spasticity Skeletal muscle atrophy Lower limb hyperreflexia Abnormal auditory evoked potentials Absence of acoustic reflex Severe hearing impairment Poor speech Hearing impairment Hyperreflexia Proximal muscle weakness Gait disturbance Distal muscle weakness Sensory neuropathy Peripheral demyelination Lower limb amyotrophy Spastic/hyperactive bladder Dysarthria Progressive pes cavus Paraplegia Paraparesis Spastic paraparesis Dysdiadochokinesis Impaired vibration sensation at ankles Abnormality of somatosensory evoked potentials Impaired vibration sensation in the lower limbs Spinal cord lesion Seizures Abnormality of the cerebrospinal fluid Muscle weakness Lower limb hypertonia Lower limb muscle weakness Degeneration of the lateral corticospinal tracts Spasticity Clonus EMG abnormality Progressive spastic paraplegia Spastic gait Distal amyotrophy Absent Achilles reflex Absent brainstem auditory responses Arrhythmia Hand muscle atrophy Areflexia Onion bulb formation Strabismus Visual impairment Optic atrophy Reduced tendon reflexes Abnormality of color vision Impaired pain sensation Abnormality of visual evoked potentials Fever Ataxia Steppage gait Abnormal speech discrimination Anhidrosis Painless fractures due to injury Scoliosis Talipes equinovarus Facial palsy Decreased motor nerve conduction velocity Irregular myelin loops Pain Abnormality of the foot Sensory impairment Hammertoe Abnormal lower-limb motor evoked potentials



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