Dysarthria, and Kyphosis

Diseases related with Dysarthria and Kyphosis

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

Top matches:

Related symptoms:

  • Hyperreflexia
  • Dysarthria
  • Tremor
  • Dementia
  • Kyphoscoliosis


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about PARKINSON-DEMENTIA SYNDROME

Spastic paraplegia-optic atrophy-neuropathy (SPOAN) syndrome is a rare, complex type of hereditary spastic paraplegia characterized by early-onset progressive spastic paraplegia presenting in infancy, associated with optic atrophy, fixation nystagmus, polyneuropathy occurring in late childhood/early adolescence leading to severe motor disability and progressive joint contractures and scoliosis. SPOAN syndrome is caused by mutations in the KLC2 gene (11q13.1), encoding kinesin light chain 2.

SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME Is also known as spoan|spg68|autosomal recessive spastic paraplegia type 68

Related symptoms:

  • Global developmental delay
  • Scoliosis
  • Ataxia
  • Nystagmus
  • Pain


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPASTIC PARAPLEGIA-OPTIC ATROPHY-NEUROPATHY SYNDROME

Early onset torsion dystonia (EOTD) is a rare movement disorder characterized by involuntary, repetitive, sustained muscle contractions or postures involving one or more sites of the body.

EARLY-ONSET GENERALIZED LIMB-ONSET DYSTONIA Is also known as eotd|dystonia musculorum deformans 1|early-onset primary dystonia|dyt1|dystonia musculorum deformans|idiopathic torsion dystonia|early-onset generalized torsion dystonia|idiopathic dystonia|oppenheim dystonia|early-onset torsion dystonia

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscular hypotonia
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET GENERALIZED LIMB-ONSET DYSTONIA

Other less relevant matches:

Episodic ataxia type 1 (EA1) is a frequent form of Hereditary episodic ataxia (EA; see this term) characterized by brief episodes of ataxia, neuromyotonia, and continuous interictal myokymia.

EPISODIC ATAXIA TYPE 1 Is also known as episodic ataxia with myokymia

Related symptoms:

  • Scoliosis
  • Delayed speech and language development
  • Motor delay
  • Dysarthria
  • Respiratory distress


SOURCES: ORPHANET MENDELIAN

More info about EPISODIC ATAXIA TYPE 1

Autosomal recessive SPG9B is a neurologic disorder characterized by early-onset complex spastic paraplegia. Affected individuals had delayed psychomotor development, intellectual disability, and severe motor impairment. More variable features include dysmorphic facial features, tremor, and urinary incontinence (summary by Coutelier et al., 2015).For a discussion of genetic heterogeneity of autosomal recessive SPG, see SPG5A (OMIM ).

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B Is also known as ar-spg9b

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Growth delay


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 9B

Cerebellar ataxia, mental retardation, and dysequilibrium syndrome (CAMRQ) is a genetically heterogeneous disorder characterized by congenital cerebellar ataxia and mental retardation (summary by Gulsuner et al., 2011).For a discussion of genetic heterogeneity of CAMRQ, see CAMRQ1 (OMIM ).

CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2 Is also known as cerebellar ataxia and mental retardation with or without quadrupedal locomotion 2

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about CEREBELLAR ATAXIA, MENTAL RETARDATION, AND DYSEQUILIBRIUM SYNDROME 2; CAMRQ2

Autosomal recessive spastic paraplegia type 35 is a rare form of hereditary spastic paraplegia characterized by childhood (exceptionally adolescent) onset of a complex phenotype presenting with lower limb (followed by upper limb) spasticity with hyperreflexia and extensor plantar responses, with additional manifestations including progressive dysarthria, dystonia, mild cognitive decline, extrapyramidal features, optic atrophy and seizures. White matter abnormalities and brain iron accumulation have also been observed on brain magnetic resonance imaging.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 35 Is also known as fatty acid hydroxylase-associated neurodegeneration|leukodystrophy, dysmyelinating, and spastic paraparesis with or without dystonia|fahn|spg35

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Ataxia
  • Nystagmus


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 35

X-linked Charcot-Marie-Tooth disease type 5 is a rare, genetic, peripheral sensorimotor neuropathy characterized by an X-linked recessive inheritance pattern and the infancy- to childhood-onset of: 1) progressive distal muscle weakness and atrophy (first appearing and more prominent in the lower extremities than the upper) which usually manifests with foot drop and gait disturbance, 2) bilateral, profound, prelingual sensorineural hearing loss and 3) progressive optic neuropathy. Females are asymptomatic and do not display the phenotype.

X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5 Is also known as cmt5x|cmtx5|optic atrophy, polyneuropathy, and deafness|rosenberg-chutorian syndrome|charcot-marie-tooth neuropathy, x-linked recessive, 5

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Ataxia


SOURCES: OMIM ORPHANET MENDELIAN

More info about X-LINKED CHARCOT-MARIE-TOOTH DISEASE TYPE 5

GM1 gangliosidosis type 3 is a mild, chronic, adult form of GM1 gangliosidosis (see this term) characterized by onset generally during childhood or adolescence and by cerebellar dysfunction.

GM1 GANGLIOSIDOSIS TYPE 3 Is also known as gangliosidosis, generalized gm1, type iii|gangliosidosis, generalized gm1, type 3|adult-onset gm1 gangliosidosis|gangliosidosis, generalized gm1, adult type|gangliosidosis, generalized gm1, chronic type

Related symptoms:

  • Intellectual disability
  • Seizures
  • Short stature
  • Scoliosis
  • Ataxia


SOURCES: ORPHANET OMIM MENDELIAN

More info about GM1 GANGLIOSIDOSIS TYPE 3

Top 5 symptoms//phenotypes associated to Dysarthria and Kyphosis

Symptoms // Phenotype % cases
Tremor Common - Between 50% and 80% cases
Scoliosis Common - Between 50% and 80% cases
Ataxia Common - Between 50% and 80% cases
Gait disturbance Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Skeletal muscle atrophy Peripheral neuropathy Motor delay Cognitive impairment Pes cavus Global developmental delay Sensory neuropathy Optic atrophy Dystonia Hypertonia Delayed speech and language development Cerebellar atrophy Intellectual disability Distal amyotrophy Paraplegia Spastic paraplegia Babinski sign Hearing impairment Generalized dystonia Difficulty walking Urinary incontinence Short stature Muscle weakness Paraparesis Spasticity Kyphoscoliosis Rigidity Nystagmus Falls Mental deterioration

Rare Symptoms - Less than 30% cases

Thoracic scoliosis Seizures Impaired pain sensation Loss of speech Flexion contracture Excessive daytime somnolence Abnormal pyramidal sign Corpus callosum atrophy Absent Achilles reflex Progressive spasticity Hyporeflexia Abnormality of the periventricular white matter Broad-based gait Skeletal muscle hypertrophy Language impairment Parkinsonism Sensory impairment Foot dorsiflexor weakness Distal sensory impairment Distal muscle weakness Areflexia Visual loss Abnormality of the cerebral white matter Lower limb muscle weakness Cerebral cortical atrophy Cataract Pollakisuria Postural instability Strabismus Absent speech Frequent falls Hyperhidrosis Intention tremor Peripheral axonal neuropathy Tetraparesis Optic disc pallor Abnormality of extrapyramidal motor function Sensorimotor neuropathy Sensory axonal neuropathy Multiple joint contractures Peripheral demyelination Dysmetria Gait ataxia Spastic tetraparesis Generalized hypotonia Sensorineural hearing impairment Neurodegeneration Hypoplasia of the corpus callosum Dysdiadochokinesis Atrophy/Degeneration affecting the brainstem Urinary urgency Ankle clonus Progressive neurologic deterioration Apraxia Abnormal cerebellum morphology Positional foot deformity Motor neuron atrophy Enuresis nocturna Pontocerebellar atrophy Mask-like facies Oculomotor apraxia Lower limb spasticity External ophthalmoplegia Lower limb hypertonia Progressive spastic paraparesis Clonus Bowel incontinence Leukodystrophy Neck muscle weakness Enuresis Spastic paraparesis Upper limb spasticity Onion bulb formation Dysmyelinating leukodystrophy Generalized amyotrophy Distal upper limb amyotrophy Intellectual disability, mild Myoclonus Platyspondyly Chorea Abnormality of the face Opacification of the corneal stroma Slurred speech Athetosis Abnormality of blood and blood-forming tissues Abnormality of peripheral nerve conduction Hyperactive deep tendon reflexes Diffuse cerebral atrophy Flared iliac wings Foam cells Visceromegaly Facial grimacing Angiokeratoma Stuttering Hypoplastic acetabulae Anterior beaking of lumbar vertebrae Positive Romberg sign Ulnar deviation of the hand Iron accumulation in globus pallidus Macular atrophy Elevated serum creatine phosphokinase Rod-cone dystrophy Reduced visual acuity Pallor Paresthesia Polyneuropathy Progressive visual loss Bilateral sensorineural hearing impairment Progressive hearing impairment Mildly elevated creatine phosphokinase Optic neuropathy Progressive sensorineural hearing impairment Congenital nystagmus Areflexia of lower limbs Kinetic tremor Abnormal nerve conduction velocity Segmental peripheral demyelination/remyelination Visual impairment Pectus excavatum Abnormality of the foot Short thumb Joint contracture of the hand Ophthalmoplegia Pseudobulbar paralysis Aplasia of the inferior half of the cerebellar vermis Focal dystonia Hyperlordosis Abnormality of movement Involuntary movements Torticollis Abnormality of the voice Abnormality of the musculature Bipolar affective disorder Blepharospasm Action tremor Torsion dystonia Depressivity Oromandibular dystonia Writer's cramp Abnormal posturing Craniofacial dystonia Respiratory distress Headache Vertigo Nausea Muscle cramps Facial palsy Dysphagia Choreoathetosis Inappropriate behavior Dementia Abnormality of eye movement Bradykinesia Ophthalmoparesis Alzheimer disease Neurofibrillary tangles Lewy bodies Senile plaques Morphological abnormality of the pyramidal tract Pain Muscular hypotonia Delayed gross motor development Progressive spastic paraplegia Decreased number of peripheral myelinated nerve fibers Impaired vibration sensation in the lower limbs Motor axonal neuropathy Distal lower limb amyotrophy Hyporeflexia of lower limbs Exaggerated startle response Hyperreflexia proximally Specific learning disability Clumsiness Atrophy of the dentate nucleus Small hand Impaired vibration sensation at ankles Impaired continence Intellectual disability, severe Cerebellar hypoplasia Micropenis Coarse facial features Short palm Hirsutism Inability to walk Short foot Primitive reflex Brain atrophy Heterotopia Truncal ataxia Intellectual disability, progressive Lissencephaly Global brain atrophy Cortical dysplasia Thoracic kyphosis Abnormality of the neck Hyperreflexia in upper limbs Urinary retention Diplopia Microcephaly Muscle stiffness Myotonia Calf muscle hypertrophy Blurred vision Poor coordination Myokymia Hand clenching Tip-toe gait Craniofacial disproportion Growth delay Mild microcephaly Abnormal facial shape Limb muscle weakness Unsteady gait Tetraplegia Spastic gait Postural tremor Impaired vibratory sensation Toe walking Lower limb hyperreflexia Decreased beta-galactosidase activity


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