Cognitive impairment, and Spastic paraplegia

Diseases related with Cognitive impairment and Spastic paraplegia

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


Top matches:

High match BENIGN FAMILIAL NEONATAL EPILEPSY


Benign familial neonatal epilepsy (BFNE) is a rare genetic epilepsy syndrome characterized by the occurrence of afebrile seizures in otherwise healthy newborns with onset in the first few days of life.

BENIGN FAMILIAL NEONATAL EPILEPSY Is also known as bfns|benign familial neonatal convulsions|benign familial neonatal seizures

Related symptoms:

  • Seizures
  • Cognitive impairment
  • Hypertonia


SOURCES: ORPHANET MENDELIAN

More info about BENIGN FAMILIAL NEONATAL EPILEPSY

Medium match SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33


Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Talipes equinovarus
  • Babinski sign


SOURCES: MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA 33, AUTOSOMAL DOMINANT; SPG33

Medium match AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72


Autosomal spastic paraplegia type 72 is a rare, genetic, pure hereditary spastic paraplegia disorder characterized by early childhood onset of slowly progressive crural spastic paraparesis presenting with spastic gait, mild stiffness at rest, hyperreflexia (in lower limbs), extensor plantar responses and, in some, mild postural tremor, pes cavus, sphincter disturbances and sensory loss at ankles.

AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72 Is also known as spg72

Related symptoms:

  • Pain
  • Spasticity
  • Hyperreflexia
  • Tremor
  • Babinski sign


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL SPASTIC PARAPLEGIA TYPE 72

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Other less relevant matches:

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 56


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

Medium match PAROXYSMAL DYSTONIC CHOREATHETOSIS WITH EPISODIC ATAXIA AND SPASTICITY


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

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39


This syndrome is characterised by progressive spastic paraplegia and distal muscle wasting.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39 Is also known as spastic paraplegia due to neuropathy target esterase mutation|spg39|nte-related motor neuron disorder|spastic paraplegia due to nte mutation|ntemnd

Related symptoms:

  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 39

Medium match COASY PROTEIN-ASSOCIATED NEURODEGENERATION


COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder.

COASY PROTEIN-ASSOCIATED NEURODEGENERATION Is also known as copan|neurodegeneration with brain iron accumulation due to coasy mutation|nbia6

Related symptoms:

  • Spasticity
  • Cognitive impairment
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about COASY PROTEIN-ASSOCIATED NEURODEGENERATION

Medium match SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1


Hereditary spastic ataxia comprises a heterogeneous group of progressive neurodegenerative disorders characterized by lower-limb spasticity and generalized ataxia with dysarthria, impaired ocular movements, and gait disturbance. Spastic ataxia-1 (SPAX1) is an autosomal dominant form of the disorder with linkage to chromosome 12p13 (summary by Meijer et al., 2002). Genetic Heterogeneity of Spastic AtaxiaSee also SPAX2 (OMIM ), caused by mutation in the KIF1C gene (OMIM ) on chromosome 17p13; SPAX3 (OMIM ), caused by rearrangements of the MARS2 gene (OMIM ) on chromosome 2q33; SPAX4 (OMIM ), caused by mutation in the MTPAP gene (OMIM ) on chromosome 10p11; SPAX5 (OMIM ), caused by mutation in the AFG3L2 gene (OMIM ) on chromosome 18p11; SPAX6 (OMIM ), caused by mutation in the SACS gene (OMIM ) on chromosome 13q12; SPAX7 (OMIM ); and SPAX8 (OMIM ), caused by mutation in the NKX6-2 gene (OMIM ) on chromosome 8q21.

Related symptoms:

  • Ataxia
  • Spasticity
  • Ptosis
  • Hyperreflexia
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPASTIC ATAXIA 1, AUTOSOMAL DOMINANT; SPAX1

Medium match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73


Autosomal dominant spastic paraplegia type 73 is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. Foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73 Is also known as spg73

Related symptoms:

  • Seizures
  • Muscle weakness
  • Spasticity
  • Hyperreflexia
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 73

Medium match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36


Autosomal dominant spastic paraplegia type 36 (SPG36) is a complex form of hereditary spastic paraplegia, characterized by an onset in childhood or adulthood of progressive spastic paraplegia (with spastic gait, spasticity, lower limb weakness, pes cavus and urinary urgency) associated with the additional manifestation of peripheral sensorimotor neuropathy.

AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36 Is also known as spg36

Related symptoms:

  • Strabismus
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Babinski sign


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 36

Top 5 symptoms//phenotypes associated to Cognitive impairment and Spastic paraplegia

Symptoms // Phenotype % cases
Spasticity Very Common - Between 80% and 100% cases
Paraplegia Very Common - Between 80% and 100% cases
Hyperreflexia Common - Between 50% and 80% cases
Spastic gait Common - Between 50% and 80% cases
Babinski sign Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Cognitive impairment and Spastic paraplegia. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Peripheral neuropathy Dystonia Progressive spastic paraplegia Skeletal muscle atrophy Pes cavus Lower limb spasticity Toe walking Ataxia Dysarthria Gait disturbance Impaired vibratory sensation Difficulty walking Seizures

Rare Symptoms - Less than 30% cases


Spastic paraparesis Paraparesis Dementia Proximal muscle weakness Distal amyotrophy Urinary incontinence Urinary urgency Distal lower limb muscle weakness Motor axonal neuropathy Progressive spastic paraparesis Impaired vibration sensation in the lower limbs Peripheral axonal neuropathy Abnormal globus pallidus morphology Rigidity Lower limb muscle weakness Memory impairment Intellectual disability Clonus Hypertonia Dysphagia Demyelinating motor neuropathy Ptosis Demyelinating sensory neuropathy Abnormal caudate nucleus morphology Eye of the tiger anomaly of globus pallidus Impaired distal tactile sensation Abnormality of thalamus morphology Impaired distal proprioception Abnormal corpus striatum morphology Motor tics Oromandibular dystonia Tics Obsessive-compulsive behavior Tetraparesis Spastic tetraplegia Abnormality of eye movement Progressive pes cavus Neuronal loss in central nervous system EMG abnormality Degeneration of the lateral corticospinal tracts Abnormal lower-limb motor evoked potentials Distal lower limb amyotrophy Strabismus Parkinsonism Arthritis Distal muscle weakness Limb muscle weakness Sensory neuropathy Abnormality of the cerebrospinal fluid Abnormality of the foot Impaired distal vibration sensation Impaired temperature sensation Muscle weakness Leg muscle stiffness Spastic ataxia Supranuclear gaze palsy Slow saccadic eye movements Bradykinesia Paroxysmal choreoathetosis Tetraplegia Global developmental delay Abnormal pyramidal sign Headache Basal ganglia calcification Lower limb hyperreflexia Unsteady gait Abnormality of the cerebral white matter Hypoplasia of the corpus callosum Motor delay Abnormality of higher mental function Paresthesia Impaired vibration sensation at ankles Upper limb spasticity Urinary bladder sphincter dysfunction Postural tremor Muscle stiffness Tremor Pain Ankle clonus Talipes equinovarus Generalized tonic-clonic seizures Dyskinesia Neurodegeneration Cerebellar atrophy Developmental regression Mental deterioration Hyporeflexia Areflexia Depressivity Behavioral abnormality Generalized limb muscle atrophy Atrophy of the spinal cord Gait ataxia Abnormality of the skeletal system Postural instability Paroxysmal dyskinesia Morphological abnormality of the pyramidal tract Episodic ataxia Brisk reflexes Diplopia Involuntary movements Choreoathetosis Dehydration Migraine Abnormal brainstem MRI signal intensity



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