Dysarthria, and Spastic paraplegia

Diseases related with Dysarthria and Spastic paraplegia

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

Top matches:

Autosomal recessive spastic paraplegia type 27 is a rare, pure or complex hereditary spastic paraplegia characterized by a variable onset of slowly progressive lower limb spasticity, hyperreflexia and extensor plantar responses, that may be associated with sensorimotor polyneuropathy, decreased vibration sense, lower limb distal muscle wasting, dysarthria and mild to moderate intellectual disability.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 27 Is also known as spg27

Related symptoms:

  • Sensorineural hearing impairment
  • Spasticity
  • Hyperreflexia
  • Dysarthria
  • Babinski sign


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 27

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 69 is a rare, complex hereditary spastic paraplegia disorder characterized by infantile onset of progressive lower limb spasticity, global developmental delay, hyperreflexia, clonus and extensor plantar reflexes, associated with dysarthria, intellectual disability, cataracts and hearing impairment.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69 Is also known as spg69

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Cataract
  • Intellectual disability, mild
  • Agenesis of corpus callosum


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 69

Other less relevant matches:

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

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

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

Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 62 Is also known as spg62

Related symptoms:

  • Scoliosis
  • Pain
  • Spasticity
  • Flexion contracture
  • Hyperreflexia


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 62

Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 76 Is also known as spg76

Related symptoms:

  • Scoliosis
  • Ataxia
  • Nystagmus
  • Spasticity
  • Peripheral neuropathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 76

ALZHEIMER DISEASE 3; AD Is also known as alzheimer disease, familial, 3|alzheimer disease 3, early-onset

Related symptoms:

  • Seizures
  • Ataxia
  • Spasticity
  • Cognitive impairment
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about ALZHEIMER DISEASE 3; AD

Autosomal recessive spastic paraplegia type 64 is an extremely rare and complex form of hereditary spastic paraplegia (see this term), reported in only 4 patients from 2 families to date, characterized by spastic paraplegia (presenting between the ages of 1 to 4 years with abnormal gait) associated with microcephaly, amyotrophy, cerebellar signs (e.g. dysarthria) aggressiveness, delayed puberty and mild to moderate intellectual disability. SPG64 is due to mutations in the ENTPD1 gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 64 Is also known as spg64

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Spasticity
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 64

Top 5 symptoms//phenotypes associated to Dysarthria and Spastic paraplegia

Symptoms // Phenotype % cases
Paraplegia Very Common - Between 80% and 100% cases
Spasticity Very Common - Between 80% and 100% cases
Gait disturbance Common - Between 50% and 80% cases
Skeletal muscle atrophy Common - Between 50% and 80% cases
Hyperreflexia Common - Between 50% and 80% cases

Other less frequent symptoms

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

Common Symptoms - More than 50% cases

Babinski sign

Uncommon Symptoms - Between 30% and 50% cases

Spastic paraparesis Pes cavus Dystonia Ataxia Spastic gait Paraparesis Lower limb spasticity Mental deterioration Lower limb hyperreflexia Difficulty walking Cognitive impairment Areflexia

Rare Symptoms - Less than 30% cases

Cerebral cortical atrophy Dysphagia Progressive spasticity Peripheral neuropathy Knee flexion contracture Abnormality of the cerebral white matter Hyporeflexia Progressive spastic paraplegia Rigidity Tetraparesis Distal amyotrophy Abnormality of eye movement Clonus Brisk reflexes Headache Memory impairment Distal sensory impairment Neuronal loss in central nervous system Impaired vibratory sensation Scoliosis Flexion contracture Intellectual disability Seizures Limb ataxia Hyperactive patellar reflex Absent Achilles reflex Poor fine motor coordination Ankle contracture Sensory axonal neuropathy Flexion contracture of finger Sensory impairment Pain Pes valgus Dysmetria Lower limb muscle weakness Abnormality of the foot Abnormal cerebellum morphology Abnormality of the nervous system Gait ataxia Nystagmus Absent patellar reflexes Tip-toe gait Lower limb pain Thoracic scoliosis Ankle clonus Sensorineural hearing impairment Hyperreflexia in upper limbs Shuffling gait Unsteady gait Delayed puberty Congenital cataract Intellectual disability, moderate Aggressive behavior Talipes equinovarus Microcephaly Optic ataxia Limb apraxia Agnosia Dyscalculia Anarthria Dysgraphia Primitive reflex Lewy bodies Functional abnormality of the bladder Spastic tetraparesis Dementia Myoclonus Ophthalmoplegia Abnormality of extrapyramidal motor function Apraxia Psychosis Leukoencephalopathy Frontotemporal dementia Mutism Personality changes Alzheimer disease Dysphasia Neurofibrillary tangles Delusions Brain atrophy Abnormal caudate nucleus morphology Bulbar palsy Diplopia Hand tremor Abnormality of movement Agenesis of corpus callosum Intellectual disability, mild Cataract Hearing impairment Global developmental delay Paroxysmal choreoathetosis Paroxysmal dyskinesia Progressive spastic paraparesis Morphological abnormality of the pyramidal tract Episodic ataxia Involuntary movements Abnormal myelination Choreoathetosis Dehydration Migraine Postural instability Dyskinesia Paresthesia Generalized tonic-clonic seizures Abnormal pyramidal sign Abnormality of somatosensory evoked potentials Spastic/hyperactive bladder Impaired vibration sensation at ankles Dysdiadochokinesis Spastic dysarthria Aplasia/Hypoplasia of the cerebellar vermis Distal muscle weakness Motor tics Visual loss Muscle weakness Generalized hypotonia Leg muscle stiffness Spastic ataxia Supranuclear gaze palsy Slow saccadic eye movements Hypertonia Ptosis Eye of the tiger anomaly of globus pallidus Abnormality of thalamus morphology Abnormal corpus striatum morphology Abnormal globus pallidus morphology Behavioral abnormality Oromandibular dystonia Tics Motor axonal neuropathy Toe walking Obsessive-compulsive behavior Spastic tetraplegia Bradykinesia Parkinsonism Tetraplegia Neurodegeneration Peripheral axonal neuropathy Developmental regression Depressivity Intellectual disability, borderline


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