Hyperreflexia, and Hyperhidrosis

Diseases related with Hyperreflexia and Hyperhidrosis

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

Top matches:

Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME Is also known as spoan|spg68|autosomal recessive spastic paraplegia type 68

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME

Brain dopamine-serotonin vesicular transport disease is a newly discovered infantile-onset neurometabolic disease characterized by dystonia, parkinsonism, nonambulation, autonomic dysfunction, developmental delay and mood disturbances.

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Ataxia
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about BRAIN DOPAMINE-SEROTONIN VESICULAR TRANSPORT DISEASE

HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B Is also known as gtp cyclohydrolase i deficiency|hyperphenylalaninemia, tetrahydrobiopterin-deficient, due to gtp cyclohydrolase i deficiency

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about HYPERPHENYLALANINEMIA, BH4-DEFICIENT, B; HPABH4B

Other less relevant matches:

Autosomal recessive dopa-responsive dystonia (DYT5b) is a very rare neurometabolic disorder characterized by a spectrum of symptoms ranging from those seen in dopa-responsive dystonia (DRD) to progressive infantile encephalopathy.

AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA Is also known as tyrosine hydroxylase-deficient dopa-responsive dystonia|dyt5b|dopa-responsive dystonia, autosomal recessive|tyrosine hydroxylase deficiency|dystonia, dopa-responsive, autosomal recessive|parkinsonism, infantile, autosomal recessive|autosomal recessive seg

Related symptoms:

  • Generalized hypotonia
  • Ataxia
  • Ptosis
  • Feeding difficulties
  • Delayed speech and language development


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE DOPA-RESPONSIVE DYSTONIA

Dopa-responsive dystonia (DRD) due to sepiapterin reductase deficiency (SRD) is a very rare neurometabolic disorder characterized by dystonia with diurnal fluctuations, axial hypotonia, oculogyric crises, and delays in motor and cognitive development.

DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY Is also known as srd|spr deficiency|drd due to srd|sepiapterin reductase deficiency|autosomal recessive sepiapterin reductase-deficient drd

Related symptoms:

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


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY

Thyrotoxic periodic paralysis (TPP) is a rare neurological disease characterized by recurrent episodes of paralysis and hypokalemia during a thyrotoxic state.

THYROTOXIC PERIODIC PARALYSIS Is also known as thyrotoxic hypokalemic periodic paralysis

Related symptoms:

  • Muscle weakness
  • Hypertension
  • Hyperreflexia
  • Tremor
  • Obesity


SOURCES: OMIM ORPHANET MENDELIAN

More info about THYROTOXIC PERIODIC PARALYSIS

Aromatic L-amino acid decarboxylase deficiency is a very rare, severe, genetic neurometabolic disorder associated with clinical manifestations related to underproduction of serotonin and dopamine, mainly hypotonia, hypokinesia, ptosis oculogyric crises, and signs of autonomic dysfunction.

AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY Is also known as ddc deficiency|aadc deficiency|dopa decarboxylase deficiency

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Pain
  • Ptosis


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY

Arnold-Chiari malformation type I is a central nervous system malformation characterized by caudal displacement of the cerebellar tonsils exceeding 5mm below the foramen magnum with or without syringomyelia. Symptoms vary in onset and severity and include suboccipital headache, neck pain, vertigo, tinnitus, ocular symptoms (diplopia, blurred vision, photofobia, nystagmus), lower cranial nerve signs, cerebellar ataxia, and spasticity. Some affected individuals can be asymptomatic.

ARNOLD-CHIARI MALFORMATION TYPE I Is also known as cm1|arnold-chiari malformation type 1|chiari malformation type 1|chiari malformation type i

Related symptoms:

  • Hearing impairment
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Muscle weakness


SOURCES: OMIM ORPHANET MENDELIAN

More info about ARNOLD-CHIARI MALFORMATION TYPE I

Multiple system atrophy (MSA) is a distinct clinicopathologic entity that manifests as a progressive adult-onset neurodegenerative disorder causing parkinsonism, cerebellar ataxia, and autonomic, urogenital, and pyramidal dysfunction in various combinations. Two main subtypes are recognized: 'subtype C,' characterized predominantly by cerebellar ataxia, and 'subtype P,' characterized predominantly by parkinsonism. MSA is characterized pathologically by the degeneration of striatonigral and olivopontocerebellar structures and glial cytoplasmic inclusions (GCIs) that consist of abnormally phosphorylated alpha-synuclein (SNCA ) or tau (MAPT ) (Gilman et al., 1998; Gilman et al., 2008; Scholz et al., 2009). 'Subtype C' of MSA has been reported to be more prevalent than 'subtype P' in the Japanese population (65-67% vs 33-35%), whereas 'subtype P' has been reported to be more prevalent than 'subtype C' in Europe (63% vs 34%) and North America (60% vs 13%, with 27% of cases unclassified) (summary by The Multiple-System Atrophy Research Collaboration, 2013).MSA is similar clinically and pathologically to Parkinson disease (PD ) and Lewy body dementia (OMIM ). See also PARK1 (OMIM ), which is specifically caused by mutation in the SNCA gene.Pure autonomic failure manifests as orthostatic hypotension and other autonomic abnormalities without other neurologic involvement. Although there is some phenotypic overlap, the relationship of pure autonomic failure to MSA is unclear (Vanderhaeghen et al., 1970; Schatz, 1996).

MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1 Is also known as msa1, susceptibility to

Related symptoms:

  • Ataxia
  • Ptosis
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MULTIPLE SYSTEM ATROPHY 1, SUSCEPTIBILITY TO; MSA1

Hereditary sensory neuropathy type I (HSN I) is a slowly progressive neurological disorder characterised by prominent predominantly distal sensory loss, autonomic disturbances, autosomal dominant inheritance, and juvenile or adulthood disease onset.

HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1 Is also known as hereditary sensory and autonomic neuropathy type i|hsan1|hsan ia|hsn ia|neuropathy, hereditary sensory, type ia|hsn1a|neuropathy, hereditary sensory radicular, autosomal dominant, type 1a

Related symptoms:

  • Intellectual disability
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Nystagmus


SOURCES: OMIM ORPHANET MENDELIAN

More info about HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1

Top 5 symptoms//phenotypes associated to Hyperreflexia and Hyperhidrosis

Symptoms // Phenotype % cases
Babinski sign Common - Between 50% and 80% cases
Dysarthria Common - Between 50% and 80% cases
Hypertonia Common - Between 50% and 80% cases
Tremor Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Hyperreflexia and Hyperhidrosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Dystonia

Uncommon Symptoms - Between 30% and 50% cases

Ptosis

Common Symptoms - More than 50% cases

Ataxia

Uncommon Symptoms - Between 30% and 50% cases

Global developmental delay Abnormal autonomic nervous system physiology Constipation Gait disturbance Muscular hypotonia of the trunk Parkinsonism Pain Motor delay Drooling Abnormality of eye movement Bradykinesia Oculogyric crisis Rigidity Muscle weakness Limb dystonia Abnormality of extrapyramidal motor function Nystagmus Cognitive impairment Irritability Intellectual disability Skeletal muscle atrophy Dysphagia Feeding difficulties Lethargy Excessive salivation Sleep disturbance Spasticity Hypokinesia Hyperkinesis Choreoathetosis Limb hypertonia Fatigue Seizures Hyporeflexia Talipes equinovarus Hypotension Muscle stiffness Abnormal pyramidal sign Pes cavus Postural tremor Gait ataxia Myoclonus

Rare Symptoms - Less than 30% cases

Vocal cord paralysis Agitation Temperature instability Athetosis Abnormality of movement Anxiety Postural instability Hypohidrosis Dementia Anhidrosis Civatte bodies Progressive neurologic deterioration Involuntary movements Microcephaly Decreased CSF homovanillic acid Central sleep apnea Opisthotonus Generalized dystonia Scoliosis Lower limb hyperreflexia Brisk reflexes Mask-like facies Hyperphenylalaninemia Delayed speech and language development Cerebral atrophy Paralysis Fever Hyperactivity Dyskinesia Peripheral neuropathy Orthostatic hypotension Hearing impairment Difficulty walking Peripheral axonal neuropathy Distal amyotrophy Sensory neuropathy Syncope Cough Gastroesophageal reflux Encephalopathy Progressive cerebellar ataxia Urinary incontinence Depressivity Paresthesia Orofacial dyskinesia Behavioral abnormality Urinary urgency Hypomimic face Stridor Dysesthesia Fatigable weakness of swallowing muscles Increased intracranial pressure Adult onset sensorineural hearing impairment Tinnitus Brain stem compression Dilatation Distal peripheral sensory neuropathy Headache Areflexia of upper limbs Photophobia Enlarged sagittal diameter of the cervical canal Abnormality of the vestibulocochlear nerve Syringomyelia Arnold-Chiari type I malformation Anteriorly placed odontoid process Abnormality of the musculature of the lower limbs Abnormality of the clivus Small flat posterior fossa Intermittent hypothermia Small posterior fossa Neck pain Abnormality of the nervous system Cranial nerve compression Spastic gait Diplopia Lower limb spasticity Basilar impression Migraine Fasciculations Cervical C2/C3 vertebral fusion Sensory impairment Myelopathy Hyperacusis Basilar invagination Cranial nerve paralysis Nausea Vertigo Fused cervical vertebrae Unsteady gait Limb muscle weakness Horner syndrome Arnold-Chiari malformation Recurrent paroxysmal headache Stiff neck Flat posterior fossa Iris atrophy Abnormality of the twelfth cranial nerve Anosmia Respiratory insufficiency Recurrent infections Areflexia Pes planus Mental deterioration Distal muscle weakness Distal sensory impairment Polyneuropathy Abnormality of the skin Abnormal blistering of the skin Paraparesis Spastic paraparesis Hammertoe Abnormality of circulating catecholamine level Osteomyelitis Pathologic fracture Arthropathy Aseptic necrosis Decreased number of large peripheral myelinated nerve fibers Restless legs Decreased sensory nerve conduction velocity Chronic axonal neuropathy Morphological abnormality of the central nervous system Paronychia Distal sensory loss of all modalities Neuropathic arthropathy Foot osteomyelitis Sensorineural hearing impairment Female anorgasmia Abnormality of the eleventh cranial nerve Gaze-evoked nystagmus Functional abnormality of the inner ear Cerebellar atrophy Pallor Small hand Neurodegeneration Gliosis Neuronal loss in central nervous system Peripheral demyelination Frequent falls Limb ataxia Impotence Bowel incontinence Resting tremor Autonomic erectile dysfunction Raynaud phenomenon Dysuria Olivopontocerebellar atrophy Cogwheel rigidity Axial dystonia Nasal obstruction Abnormal brain FDG positron emission tomography Orthostatic hypotension due to autonomic dysfunction Nocturia Autonomic bladder dysfunction Abnormal rapid eye movement sleep Camptocormia Orthostatic syncope Vitreomacular adhesion Prolonged QT interval Miosis Progressive encephalopathy Abnormality of the eye Intellectual disability, progressive Severe muscular hypotonia Torticollis Poor suck Obsessive-compulsive behavior Impulsivity Episodic fever Infantile encephalopathy Respiratory distress Intellectual disability, mild Central hypotonia Focal dystonia Strabismus Night sweats Parkinsonism with favorable response to dopaminergic medication Growth delay Aggressive behavior Small for gestational age Poor speech Apraxia Clonus Truncal ataxia Horizontal nystagmus Oculomotor apraxia Cerebral palsy Muscular hypotonia Abnormality of coordination Abnormality of the nose Impaired vibration sensation in the lower limbs Flexion contracture Optic atrophy Kyphosis Spastic paraplegia Paraplegia Optic disc pallor Sensorimotor neuropathy Delayed gross motor development Sensory axonal neuropathy Multiple joint contractures Progressive spastic paraplegia Decreased number of peripheral myelinated nerve fibers Motor axonal neuropathy Inappropriate crying Distal lower limb amyotrophy Hyporeflexia of lower limbs Exaggerated startle response Hyperreflexia proximally Abnormality of the foot Postnatal microcephaly Spastic tetraparesis Poor head control Nasal speech Dysdiadochokinesis Abnormality of the vasculature Shuffling gait Stooped posture Drowsiness Abnormality of the tongue Hypothermia Transient hypophosphatemia Impaired myocardial contractility Shortened PR interval Increased intramyocellular lipid droplets Periodic hypokalemic paresis Exercise-induced muscle fatigue Late-onset proximal muscle weakness Respiratory paralysis Episodic flaccid weakness Second degree atrioventricular block Thyrotoxicosis with diffuse goiter Episodic hypokalemia Decreased urinary potassium Thyrotoxicosis with toxic single thyroid nodule Abnormality of muscle fibers Thyrotoxicosis with toxic multinodular goitre Hypoplasia of the corpus callosum Diarrhea Hypoglycemia Feeding difficulties in infancy Chorea Cyanosis Abnormality of the face Leukodystrophy Cardiac arrest Emotional lability Insomnia Postprandial hyperglycemia Periodic paralysis Hypersomnia Goiter Excessive daytime sleepiness Transient hyperphenylalaninemia Hypertension Obesity Weight loss Proptosis Lower limb muscle weakness Tachycardia Muscle cramps Tetraplegia Palpitations EMG abnormality Hypokalemia Urinary retention Ophthalmoparesis Myotonia Ventricular fibrillation Hyperkalemia Mildly elevated creatine phosphokinase Hyperthyroidism Rhabdomyolysis Thyroiditis Hashimoto thyroiditis Hypomagnesemia Heat intolerance Graves disease Abnormality of peripheral nerve conduction Autoamputation of foot


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