Pain, and EEG abnormality

Diseases related with Pain and EEG abnormality

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


Top matches:

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13; EIEE13

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 DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2O


Autosomal dominant Charcot-Marie-Tooth disease type 2O is a rare, genetic, subtype of autosomal dominant Charcot-Marie-Tooth disease type 2 characterized by early childhood-onset of slowly progressive, predominantly distal, lower limb muscle weakness and atrophy, delayed motor development, variable sensory loss, and pes cavus in the presence of normal or near-normal nerve conduction velocities. Additional variable features may include proximal muscle weakness, abnormal gait, arthrogryposis, scoliosis, cognitive impairment, and spasticity.

AUTOSOMAL DOMINANT CHARCOT-MARIE-TOOTH DISEASE TYPE 2O Is also known as charcot-marie-tooth neuropathy, axonal, type 2o|cmt2o|charcot-marie-tooth disease, axonal, autosomal dominant, type 2o

Related symptoms:

  • Pain
  • Motor delay
  • Peripheral neuropathy
  • Gait disturbance
  • Hyporeflexia


SOURCES: OMIM ORPHANET MENDELIAN

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

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Other less relevant matches:

Low match NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; HMN2D


Distal hereditary motor neuronopathy type IID is an autosomal dominant neurologic disorder characterized by onset of slowly progressive distal lower limb weakness and atrophy between the second and fourth decades of life. Weakness usually begins in the calf muscles and later involves more proximal muscles. The severity is variable, and some patients have difficulty walking or running. Most also have upper limb involvement, particularly of the triceps and intrinsic hand muscles. Some patients may lose independent ambulation later in the disease course. Sensory impairment is typically not present, and cognition and bulbar function are normal (summary by Sumner et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of distal HMN (dHMN), see HMN type I (HMN1 ).

NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; HMN2D Is also known as hmn iid|spinal muscular atrophy, distal, autosomal dominant, calf-predominant|dhmn2d|neuropathy, distal hereditary motor, type iid

Related symptoms:

  • Pain
  • Skeletal muscle atrophy
  • Pes cavus
  • Pes planus
  • Difficulty walking


SOURCES: OMIM MENDELIAN

More info about NEURONOPATHY, DISTAL HEREDITARY MOTOR, TYPE IID; HMN2D

Low match AMYOTROPHY, MONOMELIC


Monomelic amyotrophy, also known as Hirayama disease, is characterized by insidious onset of weakness and wasting of the muscles of the hand and forearm. It is usually unilateral, but can be bilateral. It occurs most commonly as a sporadic condition, is most common in young men, and follows a relatively benign course after a few years of progression (Nalini et al., 2004; Misra et al., 2005).

AMYOTROPHY, MONOMELIC Is also known as hirayama disease|spinal muscular atrophy, juvenile, nonprogressive

Related symptoms:

  • Muscle weakness
  • Pain
  • Skeletal muscle atrophy
  • Tremor
  • Proximal muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about AMYOTROPHY, MONOMELIC

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 25


Autosomal recessive spastic paraplegia type 25 (SPG25) is a rare, complex type of hereditary spastic paraplegia characterized by adult-onset spastic paraplegia associated with spinal pain that radiates to the upper or lower limbs and is related to disk herniation (with minor spondylosis), as well as mild sensorimotor neuropathy. The SPG25 phenotype has been mapped to a locus on chromosome 6q23-q24.1.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 25 Is also known as disc herniation with spastic paraplegia, autosomal recessive|autosomal recessive spastic paraplegia-disc herniation syndrome|spg25

Related symptoms:

  • Pain
  • Spastic paraplegia
  • Congenital cataract
  • Sensory neuropathy
  • Sensorimotor neuropathy


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 25

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8


Spastic paraplegia-8 is an autosomal dominant neurologic disorder characterized by adult onset of progressive lower limb spasticity and hyperreflexia resulting in difficulty walking. Some patients may become wheelchair-bound after several decades. Other features may include upper limb spasticity, impaired vibration sense in the distal lower limbs, and urinary urgency or incontinence (summary by de Bot et al., 2013).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal dominant spastic paraplegia, see SPG3A (OMIM ).

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8 Is also known as spg8

Related symptoms:

  • Ataxia
  • Pain
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 8

Low match EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11


Early infantile epileptic encephalopathy-11 is an autosomal dominant seizure disorder characterized by infantile onset of refractory seizures with resultant delayed neurologic development and persistent neurologic abnormalities (Ogiwara et al., 2009).For a general phenotypic description and a discussion of genetic heterogeneity of EIEE, see EIEE1 (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 11; EIEE11

Low match CHARCOT-MARIE-TOOTH DISEASE TYPE 2P


Charcot-Marie-Tooth disease type 2P is a rare, genetic, axonal hereditary motor and sensory neuropathy disorder characterized by adulthood-onset of slowly progressive, occasionally asymmetrical, distal muscle weakness and atrophy (predominantly in the lower limbs), pan-modal sensory loss, muscle cramping in extremities and/or trunk, pes cavus and absent or reduced deep tendon reflexes. Gait anomalies and variable autonomic disturbances, such as erectile dysfunction and urinary urgency, may be associated.

CHARCOT-MARIE-TOOTH DISEASE TYPE 2P Is also known as cmt2p|charcot-marie-tooth disease, axonal, type 2g, formerly|cmt2g, formerly|charcot-marie-tooth neuropathy, type 2p

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Pain
  • Peripheral neuropathy
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about CHARCOT-MARIE-TOOTH DISEASE TYPE 2P

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 17


AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 17 Is also known as silver spastic paraplegia syndrome|silver syndrome|spastic paraplegia-amyotrophy of hands and feet|spg17|spastic paraplegia with amyotrophy of hands and feet

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 17

Top 5 symptoms//phenotypes associated to Pain and EEG abnormality

Symptoms // Phenotype % cases
Pes cavus Common - Between 50% and 80% cases
Sensory impairment Uncommon - Between 30% and 50% cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Lower limb muscle weakness Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Ataxia Distal sensory impairment Gait disturbance Spinal muscular atrophy Fasciculations Muscle cramps Back pain Abnormality of the foot Tremor Difficulty walking Distal muscle weakness Limb muscle weakness Decreased motor nerve conduction velocity Muscle weakness Spastic paraplegia

Rare Symptoms - Less than 30% cases


EMG abnormality Lower limb spasticity Difficulty running Foot dorsiflexor weakness Distal amyotrophy Impaired vibration sensation in the lower limbs Lower limb pain Limb pain Spastic gait Pes planus Paraplegia Proximal muscle weakness Abnormality of peripheral nerve conduction Babinski sign Hyperreflexia Spasticity Seizures Paraparesis Sensorimotor neuropathy Sensory neuropathy Ankle weakness Axonal degeneration Intellectual disability Brain atrophy Infantile spasms Epileptic encephalopathy Cerebellar atrophy Generalized tonic-clonic seizures Hypsarrhythmia Progressive microcephaly Encephalopathy Global brain atrophy Microcephaly Global developmental delay Decreased nerve conduction velocity Peripheral axonal neuropathy Hyporeflexia Generalized hypotonia Cerebral atrophy Steppage gait Hammertoe Language impairment Slurred speech Hyponatremia Atonic seizures Hyperventilation Megalencephaly Spastic tetraplegia Cerebral calcification Status epilepticus Frequent falls Febrile seizures Abnormality of eye movement Paralysis Abnormality of the eye Muscular hypotonia of the trunk Neonatal hypotonia Myoclonus Headache Vomiting Edema Hypoplasia of the corpus callosum Optic atrophy Feeding difficulties Abnormal lower-limb motor evoked potentials Abnormality of the nervous system Toe walking Excessive daytime sleepiness Amyotrophic lateral sclerosis First dorsal interossei muscle weakness First dorsal interossei muscle atrophy Abnormality of the foot musculature Thenar muscle weakness Knee pain Thenar muscle atrophy Hand muscle atrophy Hip pain Lower limb hypertonia Hand muscle weakness Motor axonal neuropathy Limb hypertonia Postural tremor Areflexia Spastic paraparesis Split hand Small hand Hypertonia Peripheral axonal degeneration Axonal degeneration/regeneration Impaired distal vibration sensation Progressive distal muscle weakness Difficulty standing Decreased number of peripheral myelinated nerve fibers Impotence Spinal cord lesion Gait ataxia Progressive pes cavus Progressive spastic paraplegia Limb dysmetria Abnormality of the immune system Cervical spinal cord atrophy Interosseus muscle atrophy Progressive spinal muscular atrophy Distal upper limb amyotrophy Upper limb amyotrophy Abnormal anterior horn cell morphology Cervical myelopathy Myelopathy Degeneration of anterior horn cells Abnormality of the upper limb Upper limb muscle weakness EMG: neuropathic changes Generalized-onset seizure Cold paresis Gliosis Abnormality of movement Triceps weakness Decreased Achilles reflex Absence seizures Weakness of the intrinsic hand muscles EMG: chronic denervation signs Lower limb amyotrophy Epileptic spasms Absent Achilles reflex Motor delay Paresthesia Nonprogressive muscular atrophy Focal-onset seizure Abnormality of the cerebrospinal fluid Dystonia Peroneal muscle atrophy Upper limb spasticity Degeneration of the lateral corticospinal tracts Low back pain Urinary bladder sphincter dysfunction Falls Progressive spasticity Urinary urgency Clonus Scoliosis Limb ataxia Urinary incontinence Arthralgia Congenital cataract Dysphagia Dysarthria Autism Upper limb pain Herniation of intervertebral nuclei Cervical spondylosis Abnormality of the lumbar spine Neck pain Spinal cord compression Congenital glaucoma Developmental regression Severe global developmental delay Abnormal motor nerve conduction velocity



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