Tremor, and Facial palsy

Diseases related with Tremor and Facial palsy

In the following list you will find some of the most common rare diseases related to Tremor and Facial palsy that can help you solving undiagnosed cases.


Top matches:

Low match MYOPATHY, DISTAL, 1; MPD1


MYOPATHY, DISTAL, 1; MPD1 Is also known as myopathy, late distal hereditary|laing distal myopathy|myopathy, distal, early-onset, autosomal dominant

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • High palate
  • Tremor
  • Gait disturbance


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, DISTAL, 1; MPD1

Low match EARLY-ONSET GENERALIZED LIMB-ONSET DYSTONIA


Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.

EARLY-ONSET GENERALIZED LIMB-ONSET DYSTONIA Is also known as eotd|dystonia musculorum deformans 1|early-onset primary dystonia|dyt1|dystonia musculorum deformans|idiopathic torsion dystonia|early-onset generalized torsion dystonia|idiopathic dystonia|oppenheim dystonia|early-onset torsion dystonia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET GENERALIZED LIMB-ONSET DYSTONIA

Low match LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2


LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2 Is also known as pelizaeus-merzbacher-like disease, 1|pmld1

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about LEUKODYSTROPHY, HYPOMYELINATING, 2; HLD2

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Other less relevant matches:

Low match ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION


Adult-onset distal myopathy due to VCP mutation is a rare, genetic distal myopathy disorder characterized by middle age-onset of distal leg muscle weakness, atrophy in the anterior compartment resulting in foot drop, without proximal or scapular skeletal muscle weakness. Rapidly progressive dementia, Paget disease of bone and hand weakness have been reported. Muscle biopsy shows pronounced myopathic changes with rimmed vacuoles.

Related symptoms:


SOURCES: ORPHANET MENDELIAN

More info about ADULT-ONSET DISTAL MYOPATHY DUE TO VCP MUTATION

Low match SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME


Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.

SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME Is also known as hereditary myoclonus-progressive distal muscular atrophy syndrome|jankovic-rivera syndrome|myoclonus, hereditary, with progressive distal muscular atrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME

Low match SNEDDON SYNDROME


Sneddon's syndrome (SS) is a rare non-inflammatory thrombotic vasculopathy characterized by the combination of cerebrovascular disease with livedo racemosa.

SNEDDON SYNDROME Is also known as livedo reticularis-cerebrovascular accident syndrome|livedo racemosa-cerebrovascular accident syndrome|livedo reticularis and cerebrovascular accidents|ehrmann-sneddon syndrome

Related symptoms:

  • Seizures
  • Muscle weakness
  • Pain
  • Visual impairment
  • Motor delay


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about SNEDDON SYNDROME

Low match EPISODIC ATAXIA, TYPE 2; EA2


Episodic ataxia is a genetically heterogeneous neurologic condition characterized by spells of incoordination and imbalance, often associated with progressive ataxia. Episodic ataxia type 2 is the most common form of EA (Jen et al., 2007).For a discussion of genetic heterogeneity of episodic ataxia, see EA1 (OMIM ).

EPISODIC ATAXIA, TYPE 2; EA2 Is also known as cerebellopathy, hereditary paroxysmal|ataxia, familial paroxysmal|capa|acetazolamide-responsive hereditary paroxysmal cerebellar ataxia|apca|cerebellar ataxia, paroxysmal, acetazolamide-responsive|ataxia, episodic, with nystagmus|episodic ataxia, nystagmu

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about EPISODIC ATAXIA, TYPE 2; EA2

Low match RIBOFLAVIN TRANSPORTER DEFICIENCY


Riboflavin transporter deficiency (RTD) is a progressive motor neuron disorder characterized by respiratory insufficiency, sensorineural deafness and progressive ponto-bulbar palsy.

RIBOFLAVIN TRANSPORTER DEFICIENCY Is also known as sensorineural hearing loss-pontobulbar palsy syndrome|brown-vialetto-van laere syndrome

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about RIBOFLAVIN TRANSPORTER DEFICIENCY

Low match ATTRV30M AMYLOIDOSIS


Familial amyloid polyneuropathy (FAP) or transthyretin (TTR) amyloid polyneuropathy is a progressive sensorimotor and autonomic neuropathy of adulthood onset. Weight loss and cardiac involvement are frequent; ocular or renal complications may also occur.

ATTRV30M AMYLOIDOSIS Is also known as familial amyloid polyneuropathy type i|ttr amyloid neuropathy|attrv30m-related amyloidosis|hereditary amyloidosis, transthyretin-related|transthyretin amyloid polyneuropathy|familial amyloid polyneuropathy, portuguese-swedish-japanese type|fap|amyloid pol

Related symptoms:

  • Seizures
  • Hearing impairment
  • Ataxia
  • Nystagmus
  • Sensorineural hearing impairment


SOURCES: OMIM ORPHANET MENDELIAN

More info about ATTRV30M AMYLOIDOSIS

Low match CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME


Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.

CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME Is also known as andermann syndrome|charlevoix disease|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|corpus callosum, agenesis of, with neuronopathy

Related symptoms:

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


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME

Top 5 symptoms//phenotypes associated to Tremor and Facial palsy

Symptoms // Phenotype % cases
Seizures Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Generalized hypotonia Uncommon - Between 30% and 50% cases
Scoliosis Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Tremor and Facial palsy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Nystagmus Skeletal muscle atrophy Intellectual disability Ataxia Motor delay Peripheral neuropathy EEG abnormality Migraine Dementia Global developmental delay Rigidity Babinski sign Dystonia Optic atrophy Gait disturbance Areflexia Flexion contracture Visual impairment Proximal muscle weakness Myalgia Pain Headache CNS hypomyelination

Rare Symptoms - Less than 30% cases


Sensory neuropathy High palate Myoclonus Vasculitis Hemiparesis Hearing impairment Pes cavus Spasticity Decreased motor nerve conduction velocity Peripheral demyelination Myopia Spastic paraparesis Aphasia Polyneuropathy Sensorineural hearing impairment Nephropathy Intention tremor Respiratory insufficiency Respiratory tract infection Abnormal autonomic nervous system physiology Cachexia Hyperreflexia Myopathy Loss of consciousness Sleep apnea Hypertension Paraparesis Ptosis Hyporeflexia Increased CSF protein Developmental regression Paresthesia Limb muscle weakness Cardiomyopathy Muscular hypotonia Dysphagia Peripheral axonal neuropathy Hypertonia Vertigo Fever Hemiplegia Ventriculomegaly Hallucinations Vomiting Bilateral sensorineural hearing impairment Hyperlordosis Depressivity Cardiomegaly Hypotension Coma Urinary incontinence Neuronal loss in central nervous system Gliosis Gaze-evoked nystagmus Paraplegia Progressive hearing impairment Cerebellar vermis atrophy Rhabdomyolysis Malignant hyperthermia Episodic ataxia Saccadic smooth pursuit Downbeat nystagmus Hypogonadism Cerebral cortical atrophy Aggressive behavior Abnormality of eye movement Optic disc pallor Gynecomastia Cranial nerve paralysis Diabetes insipidus Malabsorption Abnormality of color vision Bulbar palsy Iris hypopigmentation Abnormal cranial nerve morphology Abnormality of macular pigmentation Rheumatoid arthritis Hydrocephalus Diarrhea Congestive heart failure Renal insufficiency Arrhythmia Constipation Weight loss Arthritis Atrioventricular block Vitreous floaters Cerebral hemorrhage 2-3 toe syndactyly Long face Inability to walk Tapered finger Hypoplasia of the maxilla Tetraplegia Esotropia Narrow forehead Spastic tetraplegia Psychosis Abnormality of retinal pigmentation Sensorimotor neuropathy Low anterior hairline Decreased nerve conduction velocity Hemiplegia/hemiparesis Infantile spasms Abnormality of the cerebral white matter Partial agenesis of the corpus callosum Onion bulb formation Turricephaly Facial diplegia Demyelinating peripheral neuropathy Aqueductal stenosis Restrictive deficit on pulmonary function testing Motor polyneuropathy Progressive peripheral neuropathy EMG: chronic denervation signs Diffuse white matter abnormalities Axonal degeneration/regeneration Limb tremor Decreased sensory nerve conduction velocity Facial asymmetry Craniosynostosis Impotence Psychomotor deterioration Malnutrition Axonal degeneration Orthostatic hypotension Decreased number of peripheral myelinated nerve fibers Amyloidosis Syringomyelia Restrictive cardiomyopathy Multiple myeloma Stroke-like episode Constrictive median neuropathy Myelopathy Abnormal renal physiology Sensory ataxia Urinary retention Orthostatic hypotension due to autonomic dysfunction Neonatal hypotonia Wide nasal bridge Macrotia Brachycephaly Agenesis of corpus callosum Short nose Intellectual disability, mild Intellectual disability, severe Feeding difficulties Myotonia Abnormal facial shape Strabismus Hypertelorism Microcephaly Amyloid deposition in the vitreous humor Cardiac amyloidosis Vestibular dysfunction Facial paralysis Ophthalmoparesis Congenital nystagmus Writer's cramp Abnormal posturing Craniofacial dystonia Cognitive impairment Cerebral atrophy Muscular hypotonia of the trunk Intellectual disability, moderate Poor speech Choreoathetosis Leukodystrophy Sensory axonal neuropathy Progressive spasticity Pendular nystagmus Torsion dystonia Rotary nystagmus Cerebral hypomyelination Head titubation Demyelinating motor neuropathy Pneumonia Recurrent respiratory infections Difficulty walking Neurological speech impairment Unsteady gait Falls Generalized myoclonic seizures Generalized-onset seizure Oromandibular dystonia Focal dystonia Progressive muscle weakness Weakness of long finger extensor muscles Elevated serum creatine phosphokinase Distal muscle weakness Dilated cardiomyopathy Ragged-red muscle fibers Calf muscle hypertrophy Mildly elevated creatine phosphokinase Rimmed vacuoles Neck muscle weakness EMG: neuropathic changes Type 1 muscle fiber predominance Abnormality of the mitochondrion Left atrial enlargement Amyotrophy of ankle musculature Absent Achilles reflex Toe extensor amyotrophy Kyphosis Abnormality of movement Involuntary movements Torticollis Abnormality of the voice Multiple joint contractures Abnormality of the musculature Bipolar affective disorder Blepharospasm Generalized dystonia Action tremor Frequent falls Fasciculations Focal impaired awareness seizure Apnea Cerebral ischemia Hemianopia Arterial stenosis Thromboembolic stroke Amaurosis fugax Vascular skin abnormality Antiphospholipid antibody positivity Lupus anticoagulant Fatigue Hypoplasia of the corpus callosum Cerebellar atrophy Encephalopathy Nausea and vomiting Arteriovenous malformation Nausea Postural instability Muscle cramps Abnormal cerebellum morphology Generalized muscle weakness Progressive cerebellar ataxia Focal-onset seizure Epileptic encephalopathy Diplopia Horizontal nystagmus Tinnitus Incoordination Peripheral arterial stenosis Acrocyanosis EMG abnormality Paralysis Absence seizures Respiratory insufficiency due to muscle weakness Spinal muscular atrophy Gowers sign Oral-pharyngeal dysphagia Generalized amyotrophy Atonic seizures Tongue fasciculations Degeneration of anterior horn cells Progressive distal muscular atrophy Behavioral abnormality Mental deterioration Stroke Transient ischemic attack Confusion Chorea Memory impairment Myocardial infarction Systemic lupus erythematosus Intracranial hemorrhage Personality changes Heart murmur Cutis marmorata Visual field defect Atrophic scars Thrombocytosis Abnormal anterior horn cell morphology



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