Muscle weakness, and Glioma

Diseases related with Muscle weakness and Glioma

In the following list you will find some of the most common rare diseases related to Muscle weakness and Glioma that can help you solving undiagnosed cases.


Top matches:

Low match NEUROFIBROMATOSIS TYPE 2


Neurofibromatosis type 2 (NF2) is a tumor-prone disorder characterized by the development of multiple schwannomas and meningiomas.

NEUROFIBROMATOSIS TYPE 2 Is also known as nf2|bilateral acoustic neurofibromatosis|central neurofibromatosis

Related symptoms:

  • Ataxia
  • Sensorineural hearing impairment
  • Cataract
  • Visual impairment
  • Gait disturbance


SOURCES: ORPHANET MENDELIAN

More info about NEUROFIBROMATOSIS TYPE 2

Low match OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME


Osteoporosis pseudoglioma syndrome is a very rare autosomal recessive disorder characterized by congenital or infancy-onset blindness and severe juvenile-onset osteoporosis and spontaneous fractures.

OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME Is also known as oppg|osteogenesis imperfecta, ocular form|ocular form of osteogenesis imperfecta|ops

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about OSTEOPOROSIS-PSEUDOGLIOMA SYNDROME

Low match VESTIBULAR SCHWANNOMA


Vestibular schwannoma is a rare tumor of the posterior fossa originating in the Schwann cells of the vestibular transitional zone of the vestibulocochlear nerve that can be benign, small, slow growing and asymptomatic or large, faster growing and aggressive and potentially fatal, presenting with symptoms of hearing and balance impairment, vertigo, ataxia, headache and fifth, sixth or seventh cranial nerve dysfunction and facial numbness.

VESTIBULAR SCHWANNOMA Is also known as bilateral acoustic neurofibromatosis|acoustic neurilemoma|acoustic schwannomas, bilateral|banf|neurofibromatosis, central type|acoustic neurinoma|acn|acoustic neuroma|acoustic neurinoma, bilateral

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Neoplasm
  • Sensorineural hearing impairment


SOURCES: ORPHANET OMIM MENDELIAN

More info about VESTIBULAR SCHWANNOMA

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Other less relevant matches:

Low match NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS


NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS Is also known as neurofibromatosis with noonan phenotype|noonan-neurofibromatosis syndrome

Related symptoms:

  • Global developmental delay
  • Short stature
  • Scoliosis
  • Hypertelorism
  • Muscle weakness


SOURCES: ORPHANET OMIM MENDELIAN

More info about NEUROFIBROMATOSIS-NOONAN SYNDROME; NFNS

Low match ANAPLASTIC OLIGOASTROCYTOMA


Anaplastic oligoastrocytoma is a rare and aggressive glial tumor of the central nervous system, that usually presents in adults with seizures, is most often located in the cerebral hemispheres and that is associated with a very poor prognosis.

ANAPLASTIC OLIGOASTROCYTOMA Is also known as amoa

Related symptoms:

  • Seizures
  • Neoplasm
  • Headache
  • Brain neoplasm
  • Glioma


SOURCES: ORPHANET MENDELIAN

More info about ANAPLASTIC OLIGOASTROCYTOMA

Low match NIJMEGEN BREAKAGE SYNDROME


Nijmegen breakage syndrome is a rare genetic disease presenting at birth with microcephaly, dysmorphic facial features, becoming more noticeable with age, growth delay, and later-onset complications such as malignancies and infections.

NIJMEGEN BREAKAGE SYNDROME Is also known as microcephaly-immunodeficiency-lymphoreticuloma syndrome|ataxia-telangiectasia variant v1|microcephaly with normal intelligence, immunodeficiency, and lymphoreticular malignancies|at-v1|berlin breakage syndrome|ataxia-telangiectasia, variant 1|seemanova sy

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Ataxia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about NIJMEGEN BREAKAGE SYNDROME

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 ATYPICAL TERATOID RHABDOID TUMOR


Atypical teratoid rhabdoid tumor (ATRT) is a highly malignant central nervous system (CNS) rhabdoid tumor (RT; see this term) found almost exclusively in children.

ATYPICAL TERATOID RHABDOID TUMOR Is also known as atrt

Related symptoms:

  • Seizures
  • Ataxia
  • Muscle weakness
  • Macrocephaly
  • Hydrocephalus


SOURCES: ORPHANET MENDELIAN

More info about ATYPICAL TERATOID RHABDOID TUMOR

Low match HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE


Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic.

HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE Is also known as hereditary motor and sensory neuropathy, proximal type, formerly|hmsnp, formerly|hmsnp|hereditary motor and sensory neuropathy, proximal type

Related symptoms:

  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about HEREDITARY MOTOR AND SENSORY NEUROPATHY, OKINAWA TYPE

Low match INHERITED CREUTZFELDT-JAKOB DISEASE


Inherited or familial Creutzfeldt-Jakob disease (fCJD) is a very rare form of genetic prion disease (see this term) characterized by typical CJD features (rapidly progressive dementia, personality/behavioral changes, psychiatric disorders, myoclonus, and ataxia) with a genetic cause and sometimes a family history of dementia.

INHERITED CREUTZFELDT-JAKOB DISEASE Is also known as inherited cjd

Related symptoms:

  • Seizures
  • Nystagmus
  • Muscle weakness
  • Tremor
  • Depressivity


SOURCES: ORPHANET MENDELIAN

More info about INHERITED CREUTZFELDT-JAKOB DISEASE

Top 5 symptoms//phenotypes associated to Muscle weakness and Glioma

Symptoms // Phenotype % cases
Ataxia Uncommon - Between 30% and 50% cases
Seizures Uncommon - Between 30% and 50% cases
Visual impairment Uncommon - Between 30% and 50% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Neoplasm Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Muscle weakness and Glioma. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Global developmental delay Short stature Multiple cafe-au-lait spots Skeletal muscle atrophy Cafe-au-lait spot Cataract Tremor Migraine Sensory neuropathy Corneal opacity

Rare Symptoms - Less than 30% cases


Sensorineural hearing impairment Neuronal loss in central nervous system Acute lymphoblastic leukemia Freckling Leukemia Irritability Headache Proximal muscle weakness Pain Peripheral neuropathy Macrocephaly Muscle cramps Gliosis Fasciculations Spinal muscular atrophy Neurofibromas Lisch nodules Degeneration of anterior horn cells Depressed nasal bridge Apathy Occasional neurofibromas Facial palsy Papule Vertigo Subcutaneous nodule Neoplasm of the skin Cranial nerve paralysis Increased intracranial pressure Tinnitus Meningioma Abnormality of the retinal vasculature Astrocytoma Dysgraphia Neoplasm of the central nervous system Pseudoepiphyses of the metacarpals Pneumonia Microcephaly Intellectual disability Short neck Babinski sign Blindness Progressive spinal muscular atrophy Cerebral calcification Myelopathy Abnormality of peripheral nerve conduction Hemiplegia/hemiparesis Limitation of joint mobility Reduced consciousness/confusion Nausea and vomiting Cervical myelopathy Distal upper limb amyotrophy Hydrocephalus Cold paresis Nonprogressive muscular atrophy Cervical spinal cord atrophy Interosseus muscle atrophy Malignant neoplasm of the central nervous system Abnormal anterior horn cell morphology Cerebral palsy Upper limb amyotrophy Malar prominence Abnormality of the upper limb Abnormal hair quantity Long nose Abnormality of the musculature Autoimmune hemolytic anemia Neuroblastoma Anal stenosis Hearing abnormality Acute leukemia Abnormal eyelid morphology Recurrent bronchitis B-cell lymphoma Recurrent sinopulmonary infections Medulloblastoma Abnormality of chromosome stability Rhabdomyosarcoma Decrease in T cell count Upper limb muscle weakness B lymphocytopenia Pollakisuria T-cell lymphoma Recurrent infection of the gastrointestinal tract Anorectal anomaly Penoscrotal hypospadias Dysgammaglobulinemia Mastoiditis Progressive vitiligo Limb muscle weakness Abnormality of movement EMG abnormality Abnormality of the immune system EMG: neuropathic changes Dysphagia Mildly elevated creatine phosphokinase Areflexia Stroke-like episode Hallucinations Abnormal autonomic nervous system physiology Abnormality of vision Slurred speech Personality changes Emotional lability Global brain atrophy Insomnia Increased CSF protein Delusions Short attention span Supranuclear gaze palsy Senile plaques Spastic dysarthria Astrocytosis Bradykinesia Hypersomnia Central nervous system degeneration Trigeminal neuralgia Spastic hemiparesis Focal T2 hyperintense basal ganglia lesion Progressive extrapyramidal muscular rigidity Abnormal pupillary function Loss of facial expression Akinetic mutism Progressive forgetfulness Diffuse spongiform leukoencephalopathy Poor visual behavior for age Amyloidosis of peripheral nerves Vestibular nystagmus Clumsiness Chorea Elevated serum creatine phosphokinase Axonal degeneration Pes cavus Diabetes mellitus Distal muscle weakness Peripheral axonal neuropathy Distal sensory impairment Polyneuropathy Tetraplegia Sensory impairment Peripheral demyelination Hyperlipidemia Myotonia Sensory axonal neuropathy Amyotrophic lateral sclerosis Combined immunodeficiency Bulbar palsy Progressive cerebellar ataxia Depressivity Confusion Abnormal pyramidal sign Anxiety Gait ataxia Myoclonus Dementia Nystagmus Decreased number of peripheral myelinated nerve fibers Atrophy of the spinal cord Areflexia of lower limbs Bulbar signs Proximal amyotrophy Hand tremor Abnormality of lipid metabolism Non-midline cleft lip Neurodegeneration Abnormality of neuronal migration Vestibular Schwannoma Sensorimotor neuropathy Progressive hearing impairment Oral-pharyngeal dysphagia Hamartoma Axonal loss Subcapsular cataract Posterior subcapsular cataract Schwannoma Cortical cataract Epiretinal membrane Ependymoma Spinal cord tumor Decreased corneal sensation Neuroma Generalized muscle weakness Retinal hamartoma Mononeuropathy Bilateral vestibular Schwannoma Peripheral Schwannoma Unilateral vestibular Schwannoma Juvenile posterior subcapsular lenticular opacities Capsular cataract Scoliosis Hypertelorism Cryptorchidism Ptosis Low-set ears Delayed speech and language development Epicanthus Progressive visual loss Paralysis Atrial septal defect Inability to walk Benign neoplasm of the central nervous system Generalized hypotonia Muscular hypotonia Ventricular septal defect Intellectual disability, mild Microphthalmia Osteoporosis Glaucoma Kyphoscoliosis Osteopenia Joint laxity Platyspondyly Congenital cataract Joint hypermobility Recurrent fractures Reduced visual acuity Increased susceptibility to fractures Metaphyseal widening Pathologic fracture Vitreoretinopathy Barrel-shaped chest Retinal dysplasia Vitreous hemorrhage Retinoblastoma Iris atrophy Phthisis bulbi Severe platyspondyly Absent anterior chamber of the eye Hearing impairment Visual loss Downslanted palpebral fissures Malar flattening Premature ovarian insufficiency Sloping forehead Abnormality of the nervous system Intellectual disability, moderate Mental deterioration Attention deficit hyperactivity disorder Prominent nasal bridge Small for gestational age Anal atresia Cleft upper lip Hemolytic anemia Lymphoma Prominent nose Otitis media Convex nasal ridge Amenorrhea Cutaneous photosensitivity Retrognathia Primary amenorrhea Choanal atresia Abnormality of the face Recurrent urinary tract infections Chronic diarrhea Bronchiectasis Telangiectasia Sinusitis Abnormality of the hair Lymphopenia Low anterior hairline Recurrent pneumonia Cachexia Deep philtrum Hydronephrosis Macrotia Midface retrusion Optic nerve glioma Posteriorly rotated ears Telecanthus Pulmonic stenosis Webbed neck Wide intermamillary distance Specific learning disability Low posterior hairline Relative macrocephaly Cubitus valgus Broad neck Secundum atrial septal defect Axillary freckling Superior pectus carinatum Prominent nasolabial fold Pectus excavatum of inferior sternum Respiratory failure Inguinal freckling Brain neoplasm Growth delay Micrognathia Cleft palate Intrauterine growth retardation Respiratory insufficiency Diarrhea Immunodeficiency Thrombocytopenia Hypospadias Recurrent respiratory infections Upslanted palpebral fissure Hyperactivity EEG with persistent abnormal rhythmic activity



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