Cognitive impairment, and Pes cavus

Diseases related with Cognitive impairment and Pes cavus

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


Top matches:

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

Medium match LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET


The Jokela type of spinal muscular atrophy (SMAJ) is an autosomal dominant lower motor neuron disorder characterized by adult-onset of muscle cramps and fasciculations affecting the proximal and distal muscles of the upper and lower limbs. The disorder is slowly progressive, resulting in weakness and mild muscle atrophy later in life (summary by Jokela et al., 2011).

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Skeletal muscle atrophy
  • Tremor
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about LOWER MOTOR NEURON SYNDROME WITH LATE-ADULT ONSET

Medium match SPINOCEREBELLAR ATAXIA TYPE 23


Spinocerebellar ataxia type 23 (SCA23) is a very rare subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by gait ataxia, dysarthria, slowed saccades, ocular dysmetria, Babinski sign and hyperreflexia.

SPINOCEREBELLAR ATAXIA TYPE 23 Is also known as sca23

Related symptoms:

  • Ataxia
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria
  • Tremor


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 23

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Other less relevant matches:

Medium match L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY


L-Arginine:glycine amidinotransferase (AGAT) deficiency is a very rare type of creatine deficiency sydrome characterized by global developmental delay, intellectual disability, and myopathy.

L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY Is also known as arginine:glycine amidinotransferase deficiency|gatm deficiency|agat deficiency|creatine deficiency syndrome due to agat deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Failure to thrive


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about L-ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY

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

Medium match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43


Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43 Is also known as spg43

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Spasticity
  • Flexion contracture
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 43

Medium match SPINOCEREBELLAR ATAXIA TYPE 43


Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor.

SPINOCEREBELLAR ATAXIA TYPE 43 Is also known as sca43

Related symptoms:

  • Pain
  • Dysarthria
  • Areflexia
  • Hyporeflexia
  • Pes cavus


SOURCES: ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 43

Top 5 symptoms//phenotypes associated to Cognitive impairment and Pes cavus

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

Patients with Cognitive impairment and Pes cavus. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Skeletal muscle atrophy Difficulty walking Dysarthria Spastic gait Dementia Impaired vibratory sensation Hyporeflexia Muscle weakness Proximal muscle weakness Ataxia Gait disturbance Impaired vibration sensation in the lower limbs Distal sensory impairment Areflexia Distal amyotrophy Tremor Peripheral neuropathy

Rare Symptoms - Less than 30% cases


Cerebellar vermis atrophy Progressive cerebellar ataxia Sensorimotor neuropathy Limb ataxia Distal muscle weakness Neuronal loss in central nervous system Impaired distal vibration sensation Spastic paraparesis Slow saccadic eye movements Pain Seizures Generalized hypotonia Distal lower limb muscle weakness Progressive spastic paraplegia Urinary urgency Gait ataxia Behavioral abnormality Lower limb spasticity Urinary incontinence Dystonia Mental deterioration Peripheral axonal neuropathy Abnormality of eye movement Sensory neuropathy Myopathy Rigidity Toe walking Memory impairment Elevated serum creatine phosphokinase Abnormal globus pallidus morphology Hypertonia Pectus carinatum Unsteady gait Foot dorsiflexor weakness Decreased number of large peripheral myelinated nerve fibers Motor axonal neuropathy Abnormality of the foot Leg muscle stiffness Spastic ataxia Supranuclear gaze palsy Dysphagia Motor tics Ptosis EMG abnormality Eye of the tiger anomaly of globus pallidus Cogwheel rigidity Abnormality of thalamus morphology Hypometric saccades Abnormal corpus striatum morphology Tics Oromandibular dystonia Abnormal caudate nucleus morphology Impaired distal proprioception Impaired temperature sensation Arthritis Demyelinating motor neuropathy Lower limb muscle weakness Demyelinating sensory neuropathy Limb muscle weakness Impaired distal tactile sensation Abnormal brainstem MRI signal intensity Flexion contracture Visual loss Knee flexion contracture Brisk reflexes Progressive spasticity Bulbar palsy Distal lower limb amyotrophy Strabismus Abnormal lower-limb motor evoked potentials Progressive pes cavus Abnormality of the cerebrospinal fluid Ankle contracture Progressive spastic paraparesis Absent Achilles reflex Degeneration of the lateral corticospinal tracts Poor fine motor coordination Hyperactive patellar reflex Flexion contracture of finger Obsessive-compulsive behavior Aciduria Paraparesis Spinal muscular atrophy Peripheral demyelination Polyneuropathy Dysmetria Abnormal pyramidal sign Agenesis of corpus callosum Cerebellar atrophy Bulbar signs Frontotemporal dementia Mitochondrial myopathy Amyotrophic lateral sclerosis Calf muscle hypertrophy Hammertoe Ragged-red muscle fibers Head tremor Fasciculations Progressive muscle weakness Intention tremor Sensory impairment Muscle cramps Pes planus Abnormality of higher mental function Impaired vibration sensation at ankles Upper limb spasticity Urinary bladder sphincter dysfunction Postural tremor Muscle stiffness Action tremor Impaired proprioception Tetraparesis Gowers sign Spastic tetraplegia Bradykinesia Parkinsonism Tetraplegia Neurodegeneration Developmental regression Depressivity Abnormality of creatine metabolism Organic aciduria Progressive proximal muscle weakness Long fingers Decreased muscle mass Language impairment CNS demyelination Failure to thrive in infancy Infantile muscular hypotonia Autistic behavior Autism Intellectual disability, severe Motor delay Delayed speech and language development High palate Failure to thrive Global developmental delay Intellectual disability Kinetic tremor Distal upper limb muscle weakness



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