Intellectual disability, and Spastic paraplegia

Diseases related with Intellectual disability and Spastic paraplegia

In the following list you will find some of the most common rare diseases related to Intellectual disability and Spastic paraplegia that can help you solving undiagnosed cases.

Top matches:

Autosomal recessive spastic paraplegia type 59 is a very rare, complex hereditary spastic paraplegia characterized by an early onset of progressive lower limb spasticity, tip-toe walking, scissor gait, hyperreflexia and clonus that may be associated with borderline intellectual disability. Nystagmus and pes equinovarus have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59 Is also known as spg59

Related symptoms:

  • Intellectual disability
  • Nystagmus
  • Talipes equinovarus
  • Spastic paraplegia
  • Abnormality of the cerebral white matter


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 59

This syndrome is characterised by myoclonic epilepsy with generalised spasticity and intellectual deficit. It has been described in six males from two generations of one family. Transmission appears to be X-linked recessive and the syndrome is caused by mutations in the aristaless-related homeobox gene (ARX, Xp22.13).

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Hypertonia
  • Rigidity
  • Status epilepticus


SOURCES: ORPHANET MENDELIAN

More info about X-LINKED SPASTICITY-INTELLECTUAL DISABILITY-EPILEPSY SYNDROME

Autosomal recessive spastic paraplegia type 14 is a rare, complex hereditary spastic paraplegia characterized by adulthood-onset of slowly progressive spastic paraplegia of lower limbs presenting with spastic gait, hyperreflexia, and mild lower limb hypertonicity associated with mild intellectual disability, visual agnosia, short and long-term memory deficiency and mild distal motor neuropathy. Bilateral pes cavus and extensor plantar responses are also associated.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 14 Is also known as spg14

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Gait disturbance


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 14

Other less relevant matches:

Autosomal recessive spastic paraplegia type 60 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, inability to walk, hypertonia and impaired vibration sense at ankles, with complicating signs including sensory impairment, nystagmus, motor axonal neuropathy and mild intellectual disability.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 60 Is also known as spg60

Related symptoms:

  • Nystagmus
  • Intellectual disability, mild
  • Difficulty walking
  • Spastic paraplegia
  • Lower limb spasticity


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 60

Autosomal recessive spastic paraplegia type 71 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by infancy onset of crural spastic paraperesis with scissors gait, extensor plantar response, and increased tendon reflexes. Neuroimaging reveals a thin corpus callosum and electromyography and nerve conduction velocity studies are normal.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71 Is also known as spg71

Related symptoms:

  • Global developmental delay
  • Peripheral neuropathy
  • Hyperreflexia
  • Hypoplasia of the corpus callosum
  • Intellectual disability, mild


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 71

Autosomal recessive spastic paraplegia type 70 is a very rare, complex subtype of hereditary spastic paraplegia that presents in infancy with delayed motor development (i.e. crawling, walking) and is characterized by lower limb spasticity, increased deep tendon reflexes, extensor plantar responses, impaired vibratory sensation at ankles, amyotrophy and borderline intellectual disability. Additional signs may include gait disturbances, Achilles tendon contractures, scoliosis and cerebellar abnormalities.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70 Is also known as spg70

Related symptoms:

  • Global developmental delay
  • Peripheral neuropathy
  • Intellectual disability, mild
  • Abnormality of movement
  • Nephrotic syndrome


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 70

SPG56 is an autosomal recessive neurodegenerative disorder characterized by early-onset progressive lower-limb spasticity resulting in walking difficulties. Upper limbs are often also affected, and some patients may have a subclinical axonal neuropathy (summary by Tesson et al., 2012).For a general phenotypic description and a discussion of genetic heterogeneity of autosomal recessive spastic paraplegia, see {270800}.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56 Is also known as spg56

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Spasticity
  • Cognitive impairment
  • Motor delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56

Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67 Is also known as spg67

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Intellectual disability, mild
  • Babinski sign
  • Agenesis of corpus callosum


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67

Dystonia-9 is an autosomal dominant neurologic disorder characterized by childhood onset of paroxysmal choreoathetosis and progressive spastic paraplegia. Most show some degree of cognitive impairment. Other variable features may include seizures, migraine headaches, and ataxia (summary by Weber et al., 2011).

PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY Is also known as dyt9|cse choreoathetosis, paroxysmal, with episodic ataxia|episodic choreoathetosis/spasticity|choreoathetosis, kinesigenic, with episodic ataxia and spasticity|choreoathetosis/spasticity, episodic

Related symptoms:

  • Intellectual disability
  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY

Autosomal recessive spastic paraplegia type 66 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, severe gait disturbances leading to a non-ambulatory state, absent deep tendon reflexes and amyotrophy. Additional signs include severe sensorimotor neuropathy, pes equinovarus and mild intellectual disability. Cerebellar and corpus callosum hypoplasia, as well as colpocephaly, are observed on neuroimaging.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 66 Is also known as spg66

Related symptoms:

  • Intellectual disability
  • Talipes equinovarus
  • Hypoplasia of the corpus callosum
  • Areflexia
  • Cerebellar hypoplasia


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 66

Top 5 symptoms//phenotypes associated to Intellectual disability and Spastic paraplegia

Symptoms // Phenotype % cases
Lower limb spasticity Common - Between 50% and 80% cases
Spastic gait Common - Between 50% and 80% cases
Intellectual disability, mild Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Progressive spastic paraplegia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Intellectual disability and Spastic paraplegia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Babinski sign Peripheral neuropathy Global developmental delay Spasticity Abnormal myelination Limb hypertonia Paraplegia Abnormality of movement Hypoplasia of the corpus callosum Difficulty walking

Rare Symptoms - Less than 30% cases

Hand tremor Nystagmus Impaired vibration sensation in the lower limbs Motor axonal neuropathy Dystonia Cognitive impairment Abnormality of the cerebral white matter Hypertonia Gait disturbance Clonus Lower limb hyperreflexia Talipes equinovarus Paraparesis Diplopia Involuntary movements Pes cavus Choreoathetosis Migraine Postural instability Dyskinesia Paresthesia Generalized tonic-clonic seizures Dehydration Brisk reflexes Spastic paraparesis Headache Episodic ataxia Morphological abnormality of the pyramidal tract Progressive spastic paraparesis Paroxysmal dyskinesia Paroxysmal choreoathetosis Areflexia Cerebellar hypoplasia Colpocephaly Lower limb amyotrophy Abnormal pyramidal sign Aplasia/Hypoplasia of the cerebellar vermis Dysarthria Motor delay Progressive spasticity Lower limb hypertonia Hemiplegia Muscle stiffness Status epilepticus Rigidity EMG abnormality Abnormal cerebellum morphology Nephrotic syndrome Interstitial pulmonary abnormality Unsteady gait Ataxia Peripheral axonal neuropathy Toe walking Basal ganglia calcification Abnormal globus pallidus morphology Agenesis of corpus callosum Cerebral cortical atrophy Generalized amyotrophy Limb tremor Lower limb muscle weakness Seizures Chronic sensorineural polyneuropathy


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