Muscle weakness, and Dysarthria

Diseases related with Muscle weakness and Dysarthria

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

Top matches:

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 18; ALS18

Related symptoms:

  • Muscle weakness
  • Dysarthria
  • Dysphagia
  • Respiratory failure
  • Fasciculations


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 12; ALS12

Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by upper and lower motor neuron dysfunction resulting in rapidly progressive paralysis and death from respiratory failure. The pathologic hallmarks of the disease include pallor of the corticospinal tract due to loss of motor neurons, presence of ubiquitin-positive inclusions within surviving motor neurons, and deposition of pathologic TDP43 (TARDBP ) aggregates. Patients with ALS14 may develop frontotemporal dementia (FTD) (summary by Johnson et al., 2010).See inclusion body myopathy with early-onset Paget disease and frontotemporal dementia (IBMPFD ), which is also caused by mutation in the VCP gene and shows some overlapping features. In some families with a VCP mutation, some family members may have ALS14, and other members may have IBMPFD.For a general phenotypic description and a discussion of genetic heterogeneity of amyotrophic lateral sclerosis, see ALS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Dysarthria
  • Skeletal muscle atrophy
  • Myopathy
  • Dementia


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS14

Other less relevant matches:

AOA3 is an autosomal recessive progressive neurologic disorder with onset in the second decade of life (Al Tassan et al., 2012).For a discussion of genetic heterogeneity of ataxia-oculomotor apraxia, see AOA1 (OMIM ).

Related symptoms:

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Dysarthria
  • Cerebellar atrophy


SOURCES: OMIM MENDELIAN

More info about ATAXIA-OCULOMOTOR APRAXIA 3; AOA3

Spinocerebellar ataxia type 4 (SCA4) is a very rare progressive and untreatable subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by ataxia with sensory neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 4 Is also known as spinocerebellar ataxia, autosomal dominant, with sensory axonal neuropathy|sca4

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Peripheral neuropathy
  • Dysarthria
  • Gait disturbance


SOURCES: OMIM ORPHANET MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 4

Spinocerebellar ataxia type 38 (SCA38) is a subtype of autosomal dominant cerebellar ataxia type 3 characterized by the adult-onset (average age: 40 years) of truncal ataxia, gait disturbance and gaze-evoked nystagmus. The disease is slowly progressive with dysarthria and limb ataxia following. Additional manifestations include diplopia and axonal neuropathy.

SPINOCEREBELLAR ATAXIA TYPE 38 Is also known as sca38

Related symptoms:

  • Ataxia
  • Nystagmus
  • Peripheral neuropathy
  • Dysarthria
  • Tremor


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA TYPE 38

Primary lateral sclerosis (PLS) is an idiopathic non-familial motor neuron disease characterized by slowly progressive upper motor neuron dysfunction leading to spasticity, mild weakness in voluntary muscle movement, hyperreflexia, and loss of motor speech production.

PRIMARY LATERAL SCLEROSIS Is also known as pls, adult|adult-onset primary lateral sclerosis|adult-onset pls|pls|plsa

Related symptoms:

  • Muscle weakness
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Dysarthria


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PRIMARY LATERAL SCLEROSIS

Progressive polyneuropathy with bilateral striatal necrosis is a rare, genetic disorder of thiamine metabolism and transport characterized by the childhood-onset of recurrent episodes of flaccid paralysis and encephalopathy, associated with bilateral striatal necrosis and chronic progressive axonal polyneuropathy with proximal and distal muscle weakness, areflexia, contractures and foot deformities.

PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS Is also known as striatal necrosis, bilateral, and progressive polyneuropathy|bilateral striatal degeneration and progressive polyneuropathy

Related symptoms:

  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROGRESSIVE POLYNEUROPATHY WITH BILATERAL STRIATAL NECROSIS

Related symptoms:

  • Ataxia
  • Nystagmus
  • Muscle weakness
  • Peripheral neuropathy
  • Dysarthria


SOURCES: OMIM MENDELIAN

More info about SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 26; SCAR26

Autosomal recessive spastic paraplegia-78 is an adult-onset neurodegenerative disorder characterized predominantly by spasticity and muscle weakness of the lower limbs, resulting in gait difficulties and loss of ambulation in some patients. Affected individuals also have cerebellar signs, such as dysarthria, oculomotor disturbances, and limb and gait ataxia; brain imaging shows cerebellar atrophy. Some patients may have mild cognitive impairment or frank dementia. The phenotype is highly variable (summary by Estrada-Cuzcano et al., 2017).Biallelic mutation in the ATP13A2 gene also causes Kufor-Rakeb syndrome (KRS ), a neurodegenerative disorder with overlapping features. Patients with KRS have earlier onset and prominent parkinsonism. Loss of ATP13A2 function results in a multidimensional spectrum of neurologic features reflecting various regions of the brain and nervous system, including cortical, pyramidal, extrapyramidal, brainstem, cerebellar, and peripheral (summary by Estrada-Cuzcano et al., 2017).

ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS Is also known as juvenile parkinsonism-neuronal ceroid lipofuscinosis|cln12 disease

Related symptoms:

  • Ataxia
  • Nystagmus
  • Strabismus
  • Muscle weakness
  • Spasticity


SOURCES: ORPHANET OMIM MENDELIAN

More info about ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS

Top 5 symptoms//phenotypes associated to Muscle weakness and Dysarthria

Symptoms // Phenotype % cases
Peripheral neuropathy Uncommon - Between 30% and 50% cases
Distal sensory impairment Uncommon - Between 30% and 50% cases
Cerebellar atrophy Uncommon - Between 30% and 50% cases
Ataxia Uncommon - Between 30% and 50% cases
Dysphagia Uncommon - Between 30% and 50% cases

Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases

Amyotrophic lateral sclerosis Peripheral axonal neuropathy Areflexia Nystagmus Polyneuropathy Dysmetria Hyporeflexia Babinski sign Fasciculations Spasticity Skeletal muscle atrophy Sensory impairment

Rare Symptoms - Less than 30% cases

Gait disturbance Frequent falls Tremor Gait ataxia Difficulty walking Distal muscle weakness Limb ataxia Slow saccadic eye movements Oculomotor apraxia Hyperreflexia Apraxia Unsteady gait Paralysis Parkinsonism Falls Respiratory failure Dementia Dystonia Cerebral cortical atrophy Myoclonus Pes cavus Depressivity Cerebral atrophy Cognitive impairment Hypoplasia of the corpus callosum Fatigue Strabismus Hypermetric saccades Positive Romberg sign Dysdiadochokinesis Sensorimotor neuropathy Contractures of the joints of the lower limbs Rigidity Mental deterioration Aggressive behavior Postural tremor Upgaze palsy Parkinsonism with favorable response to dopaminergic medication Myokymia Neurogenic bladder Supranuclear gaze palsy Diffuse cerebral atrophy Resting tremor Hallucinations Increased CSF lactate Spastic tetraplegia Bradykinesia Tetraplegia Abnormal cerebellum morphology Postural instability Paraplegia Abnormality of eye movement Spastic paraplegia Limb joint contracture Talipes equinovarus Abnormality of the foot Impaired smooth pursuit Impaired tactile sensation Limb dysmetria Impaired proprioception Absent Achilles reflex Motor deterioration Motor axonal neuropathy Sensory axonal neuropathy Behavioral abnormality Impaired vibratory sensation Progressive cerebellar ataxia Sensory neuropathy Abnormality of movement Poor speech Neurodegeneration Frontotemporal dementia Limb muscle weakness Pallor Lethargy Spastic paraparesis Encephalopathy Flexion contracture Abnormal nerve conduction velocity Abnormal upper motor neuron morphology Degeneration of the lateral corticospinal tracts Spastic dysarthria Spastic tetraparesis Paraparesis Myopathy Muscle stiffness Spastic gait Clumsiness Tetraparesis Confusion Progressive gait ataxia Tongue fasciculations Abnormal caudate nucleus morphology


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