Rare Neurological Disorders In Humans

Rare Neurological Disorders

In today’s world, rare neurological disorders in humans are conditions that affect the spinal cord, brain, and body’s nerves.

A list of rare neurological disorders

neurological disorders list

Rare neurological disorder conditions might have an unknown cause, be hereditary, post-infectious, or iatrogenic. However, they may have an impact on peripheral nerves, the spinal cord, or the brain. Although mild tremors and serious motor and cognitive impairment are all possible symptoms. Therefore, therapy frequently offers help.


A rare X-linked neurological condition known as adrenoleukodystrophy typically affects young men.

However, the X-linked recessive disease is inherited.

Primarily affects young boys (early childhood)

Pathophysiology: A mutation in the ABCD1 gene, which codes for a protein that transports ATP in peroxisomes (located on chromosome X).

Although very-long-chain fatty acid (VLCFA) transport into peroxisomes is impaired.

VLCFA builds up in the testicles, white matter, and adrenal glands as a result of impaired oxidation.

However, the destruction of adrenal and Leydig cells, however, demyelination of neurons


  • cognitive dysfunction
  • progressive loss of hearing, vision, and motor function
  • Dementia
  • Lack of the adrenal glands
  • Coma
  • Death


  • increased plasma VLCFA concentration
  • lower levels of cortisol and ACTH in the adrenals
  • Occipitoparietal white matter demyelination on brain MRI
  • the analysis of mutations


VLCFA restriction and Lorenzo’s oil are two dietary therapies;

Moreover, corticosteroid replacement therapy for adrenal insufficiency

However, allogeneic hematopoietic stem cell transplantation for early cerebral adrenoleukodystrophy

Adrenoleukodystrophy (literally, “tissue wasting of the adrenals and the white matter of the nervous system”) is the medical term for this condition.

Vertical gaze palsy

a conjugate, bilateral restriction of eye movements in the upward- and downward-gazing directions. These Rare Neurological Disorders have multiple symptoms also.

Damage to cranial nerves or the superior colliculi in the midbrain is caused by malignancies (such as pinealoma), multiple sclerosis, encephalitis, and cerebral infarction.

A germinoma, which frequently secretes -hCG, is the most typical pinealoma in infants.


Symptoms of vertical gaze palsy in conjugation


inadequate pupillary response to light, but adequate pupillary response with accommodation

Ataxia (due to cerebellar involvement)

Boys who have germinoma may have early puberty.

Treatment entails addressing the underlying issue.

chemotherapy or focused radiation if there are pinealomas.

Pinocular germinoma

Kluver Bucy syndrome

neurological disorders

However, bilateral injury to the medial portions of the anterior temporal lobes causes the unusual behavioral disease known as Kluver Bucy syndrome (amygdala, hippocampus).


Infection (e.g., HSV-1 encephalitis)

head injury


Malignancy (e.g., brain metastases)

illness that affects the brain (e.g., Alzheimer’s disease)

Damage to the medial portions of the anterior temporal lobes on both sides is the pathophysiology (amygdala, hippocampus)


  • Hyperorality is the term for excessive mouth-to-mouth behavior, although this includes excessive chewing, sucking, and lip-smacking.
  • Hyperphagia
  • Placidity
  • dysfunctional thinking (e.g., memory loss, distractibility, amnesia, aphasia)
  • Visual ignorance
  • Seizures


  • Symptomatic and psychotropic medications
  • If an active HSV infection is suspected, take acyclovir.

Also Read:- Foods to Avoid In Multiple Sclerosis

Empty Sella syndrome

Rather than being a clinical ailment, this is thought to be a radiologic discovery.

On MRI, a tiny, flat pituitary gland can be seen inside the sella turcica (empty sella)

Epidemiology: Obese women with hypertension are more frequently affected


Idiopathic primary form

Secondary form: linked to trauma, infarction, radiation therapy, surgery on the pituitary gland, and idiopathic intracranial hypertension (e.g., Sheehan syndrome)


Primary forms: compression and/or atrophy of the pituitary gland; enlargement or deformity of the sella turcica, however, which surrounds the pituitary gland; However, leakage of CSF into and partial or total filling of the sella turcica.

Moreover, the small pituitary gland as a result of, for instance, the surgical removal of a pituitary tumor or elevated intracranial pressure is the secondary form.


typically asymptomatic

In severe situations, hypopituitarism symptoms


Although, hormone replacement therapy for hypopituitarism

Lance-Adams syndrome

A rare side effect of adequate cardiac resuscitation that frequently includes action myoclonus also a Rare Neurological Disorder.

Hypoxic brain injury is the cause.


various kinds of myoclonus (possibly in combination with asterixis and cerebellar ataxia)


antimyoclonic medications

Syndrome Tolosa-Hunt

However, this is an unidentified syndrome with a unilateral periorbital headache and one or more oculomotor nerve palsies.

Etiology: unknown

Pathophysiology: Cavernous sinus or superior orbital fissure-related granulomatous inflammation


severe discomfort behind the eyes

eye paralysis (paresis) (ophthalmoplegia)


prescription of prednisone

Myelopathy caused by HTLV-1

An uncommon, persistent neurologic condition with a sluggish progression that is linked to HTLV-1

Tropical regions are affected by epidemiology.

However, human T-cell lymphotropic virus type I (HTLV-1) infection, immune system response in the central nervous system, chronic CNS inflammation, and neurodegeneration are the etiologies.


In a manner similar to multiple sclerosis or amyotrophic lateral sclerosis, with the inclusion of Polymyositis.



Prion diseases

Diseases brought on by prion contamination Although animals and humans are both affected by prion diseases. However, a different card discusses Creutzfeldt-Jakob disease (CJD) and variant CJD.


prion infection that is quickly fatal.

Moreover, cannibalism rituals served as the etiology of acquisition.

Pathophysiology of gray matter, however, spongiform degeneration, gliosis, and neuronal loss in the brain

Also Read:- Effective Lifestyle Habits which can Reduce the Risk of Dementia


  • Ataxia of the brain
  • trembled muscles
  • irrational chuckling
  • Supportive treatment
  • Syndrome Sträussler-Scheinker-Gertmann
  • a prion infection that is quickly fatal
  • Amyloid plaques are deposited in the pathophysiology, primarily in the cerebellum.


Ataxia of the brain



dementia of late-onset

Supportive treatment

Neurodegeneration with brain iron accumulation 1

neurological disorder

However, a neurological condition that runs in families and is characterized by brain iron accumulation

Children are typically affected by epidemiology.

Etiology: PANK2 gene mutation (encodes the enzyme pantothenate kinase 2)

However, iron buildup in the brain due to pantothenate kinase 2 deficiency is the pathophysiology (mainly the basal ganglia).


Rigor \sTremor




Signs of a pyramidal tract (e.g., Babinski sign)

Moreover, symptomatic treatment (i.e., anticholinergics, benzodiazepines, and anti-spasmodic drugs)

Optical crisis

a prolonged period of spasmodic upward eye movement that usually lasts several minutes


Drug-induced (i.e., neuroleptics, amantadine, benzodiazepines)

alcohol consumption, emotional tension, and exhaustion

Basal ganglia abnormalities are additionally seen in individuals (e.g., postencephalitic Parkinsonism, Parkinson’s disease)


followed by an upward eye deviation and a fixed stare


Eye discomfort

Treatment Includes diphenhydramine and/or benztropine.

Cramp fasciculation syndrome

A general hyperexcitability condition of the peripheral nerve with an unknown cause.




several diagnoses

A persistent condition known as benign fasciculation syndrome causes numerous fasciculations but no muscular atrophy, weakness, or other neurological issues.

A rare disease called neuromyotonia is characterized by persistent fasciculations, muscle stiffness, myokymias, and the emergence of myotonic movements following muscle contraction. Moreover, it is linked to VGKC-antibody complexes.

Supportive treatment

Periodic limb movement disorder

a syndrome that causes frequent, unconscious toe and ankle flexion and extension (and occasionally knee and hip motion) while you’re sleeping

Etiology: unknown

Pathophysiology: idiopathic dopaminergic system dysfunction


recurring arm and leg motions

However, benzodiazepines, dopaminergic substances, or antiepileptic medicines are used as treatments (e.g., gabapentin).

Denny-Brown syndrome

Moreover, a polyneuropathy paraneoplastic, typically linked to small cell lung cancer,


symmetrical distal paresthesia

Proprioception and autonomous control dysfunction

Treat the underlying condition (SCLC)

Epilepsia partialis continua

a rare kind of epilepsy that resembles status epilepticus but exclusively impacts specific body regions


brain cancer

Traumatic brain injury Encephalitis

The Clinic attributes: seizures with focused motor clonus that may last for days, weeks, or even longer.

However, treatment entails addressing the underlying issue.

Giant axonal neuropathy

a chronic degenerative neurological illness that is autosomal recessive


polyneuropathy with early-onset

issues with the bladder


lack of sweating ability or heat intolerance

Supportive treatment

fatal before the third decade of life is the prognosis

a central core condition

switch arrow icon

However, an uncommon congenital myopathy is described.

Pediatric onset according to epidemiology Clinical characteristics

weak proximal muscles


dysplastic hips

delay in development

Symptomatic and supportive therapy

Syndrome Kleine-Levin

a rare neurological condition marked by hypersexuality, hypersomnia, and binge eating

Epidemiology: Predominantly affects male adolescents.

Unknown Etiology (although viral infections have been implicated)


Hypersomnia that occurs frequently (however, patients are only awake for 1-2 hours each day)

When awake, hypersexuality

Food bingeing

Recurrent menstrual hypersomnia as a subtype

However, this is a very uncommon variation.

marked by frequent episodes of extreme drowsiness either before or during menstruation

Moreover, compulsive eating (65% of cases) (29 percent of cases)

Sometimes symptoms improve after using estrogen-containing birth control.

Supportive treatment

Elsberg disorder

an infectious condition characterized by bilateral lumbosacral radiculitis and lower spinal cord myelitis

Sacral myeloradiculitis has a variety of viral etiologies, with HSV-2 infection being the most prevalent.

Although, Clinical indicators of lumbosacral radiculitis include temporary urine retention.

Supportive treatment (i.e., urethral catheterization)

Myelo-optic neuropathy that is acute (SMON)

A severe neurodegenerative condition brought on by clioquinol treatment is defined as

Epidemiology: In the 1960s, however, Japan saw the majority of cases.

Iatrogenic in origin (induced by the drug clioquinol)


gradual paralysis


Reversible treatment (withdraw clioquinol)

Canavan disease

White matter loss progresses over time in Canavan illness, However, a rare genetic neurological condition. It is also considered one of the known Rare Neurological Disorders.

The aspartoacylase (ASPA) gene, produces the enzyme aspartoacylase, which converts N-Acetylaspartic acid (NAA) into aspartate and acetate, However, the cause of the condition is unclear.

ASPA gene mutation causes neuronal pathophysiological dysfunction and a lack of myelin is caused by high NAA levels in neurons however, oligodendrocytes also.


  • The two primary illness types are mild/juvenile and neonatal/infantile.
  • Neonatal/infantile form: normal at birth; Moreover, first signs appear between 3 and 6 months of age.
  • Macrocephaly
  • lack of mental discipline
  • Hypotonia
  • Seizures
  • progressive loss of vision
  • Early-onset in mild/young forms:
  • Based on clinical and neuroimaging results, the diagnosis
  • increased NAA concentrations in urine samples
  • Neuroimaging
  • However, White matter degeneration in the subcortical regions of the brain is diffuse and symmetrical.
  • Elevated NAA and NAA: creatine ratios in MR spectroscopy (pathognomonic finding)
  • Testing for molecular genetics 

Supportive treatment (e.g., feeding gastrostomy tube in case of dysphagia, AED to manage seizures, botulinum toxin injections for spasticity)

However, death in the first ten years of life in the neonatal or infantile form

Mild/young form: lifetime comparable to that of the general population

However, The buildup of NAA is what causes CaNAAvan illness.

Also, Read Allergies’ Impact on Mental Health.


So this is about Rare Neurological Disorders with symptoms. With increasing age, degenerative neurological conditions that impact cognition, sensory function, and although, motor abilities are more prevalent. Moreover, as a result of the functional impairment, older adults have a worse quality of life and become dependent, necessitating assistance with basic personal care. The requirement for expert long-term care services, whether provided at home or in a facility, is strongly correlated with these illnesses. However, research into the causes and treatments of age-related neurological illnesses is of utmost relevance if we are to achieve the objective of making increasing life expectancy a story of effective aging rather than increasing impairment.