Muscle weakness, and Cerebral atrophy

Diseases related with Muscle weakness and Cerebral atrophy

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


Top matches:

Low match 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY


3-Phosphoserine phosphatase deficiency is an extremely rare form of serine deficiency syndrome (see this term) characterized clinically by congenital microcephaly and severe psychomotor retardation in the single reported case to date, which was associated with Williams syndrome (see this term).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about 3-PHOSPHOSERINE PHOSPHATASE DEFICIENCY

Low match DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2


Charcot-Marie-Tooth disease type 2T (CMT2T) is a slowly progressive autosomal recessive sensorimotor peripheral neuropathy with onset in middle age (Higuchi et al., 2016).For a phenotypic description and a discussion of genetic heterogeneity of axonal CMT, see CMT2A1 (OMIM ).

DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2 Is also known as charcot-marie-tooth neuropathy, type 2t|charcot-marie-tooth disease, axonal, autosomal recessive, type 2t|dnajb2-related cmt2

Related symptoms:

  • Ataxia
  • Cognitive impairment
  • Peripheral neuropathy
  • Gait disturbance
  • Cerebral atrophy


SOURCES: OMIM ORPHANET MENDELIAN

More info about DNAJB2-RELATED CHARCOT-MARIE-TOOTH DISEASE TYPE 2

Low match ATP13A2-RELATED JUVENILE NEURONAL CEROID LIPOFUSCINOSIS


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

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Other less relevant matches:

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 32


Autosomal recessive spastic paraplegia type 32 (SPG32) is a rare, complex type of hereditary spastic paraplegia characterized by a slowly progressive spastic paraplegia (with walking difficulties appearing at onset at 6-7 years of age) associated with mild intellectual disability. Brain imaging reveals thin corpus callosum, cortical and cerebellar atrophy, and pontine dysraphia. The SPG32 phenotype has been mapped to a locus on chromosome 14q12-q21.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 32 Is also known as spg32

Related symptoms:

  • Intellectual disability
  • Spasticity
  • Peripheral neuropathy
  • Hyperreflexia
  • Hypoplasia of the corpus callosum


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 32

Low match FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4; FTDALS4


Frontotemporal dementia and/or amyotrophic lateral sclerosis-4 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. The phenotype is highly variable (summary by Freischmidt et al., 2015).For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (OMIM ).

Related symptoms:

  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy
  • Dysphagia


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 4; FTDALS4

Low match FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3; FTDALS3


Frontotemporal dementia and/or amyotrophic lateral sclerosis-3 is an autosomal dominant neurodegenerative disorder characterized by adult or late adult onset of cognitive impairment, behavioral abnormalities, and speech apraxia and/or upper and lower motor neuron signs. Some patients may also develop Paget disease of bone. The phenotype is highly variable, even within families (summary by Rea et al., 2014).For a discussion of genetic heterogeneity of FTDALS, see FTDALS1 (OMIM ).

Related symptoms:

  • Muscle weakness
  • Cognitive impairment
  • Hyperreflexia
  • Dysarthria
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3; FTDALS3

Low match AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D


AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D Is also known as ri-cmt type d

Related symptoms:

  • Hearing impairment
  • Muscle weakness
  • Pain
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL RECESSIVE INTERMEDIATE CHARCOT-MARIE-TOOTH DISEASE TYPE D

Low match SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE C


SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE C Is also known as mocod type c|combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type c

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Feeding difficulties
  • Hyperreflexia


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about SULFITE OXIDASE DEFICIENCY DUE TO MOLYBDENUM COFACTOR DEFICIENCY TYPE C

Low match FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2


Related symptoms:

  • Hearing impairment
  • Ataxia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 2; FTDALS2

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 21


Autosomal recessive spastic paraplegia type 21 is a complex type of hereditary spastic paraplegia characterized by an onset in adolescence or adulthood of slowly progressive spastic paraparesis associated with the additional manifestations of apraxia, cognitive and speech decline (leading to dementia and akinetic mutism in some cases), personality disturbances and extrapyramidal (e.g. oromandibular dyskinesia, rigidity) and cerebellar (i.e. dysdiadochokinesia and incoordination) signs. Subtle abnormalities (e.g. developmental delays) may be noted earlier in childhood. A thin corpus callosum and white matter abnormalities are equally reported on magnetic resonance imaging.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 21 Is also known as mast syndrome|spg21|spastic paraplegia 21, autosomal recessive

Related symptoms:

  • Global developmental delay
  • Spasticity
  • Motor delay
  • Peripheral neuropathy
  • Hyperreflexia


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 21

Top 5 symptoms//phenotypes associated to Muscle weakness and Cerebral atrophy

Symptoms // Phenotype % cases
Hyperreflexia Common - Between 50% and 80% cases
Dysarthria Uncommon - Between 30% and 50% cases
Hyporeflexia Uncommon - Between 30% and 50% cases
Dementia Uncommon - Between 30% and 50% cases
Cognitive impairment Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

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

Uncommon Symptoms - Between 30% and 50% cases


Babinski sign Cerebral cortical atrophy Dysphagia Peripheral neuropathy Paraplegia Spastic paraplegia Pes cavus Spasticity Hypoplasia of the corpus callosum Amyotrophic lateral sclerosis Frontotemporal dementia Bulbar palsy Distal sensory impairment Mutism Apraxia Hypertonia Global developmental delay Areflexia Gait disturbance Ataxia Skeletal muscle atrophy

Rare Symptoms - Less than 30% cases


Difficulty walking Lower limb muscle weakness Seizures Fasciculations Personality changes Parkinsonism Abnormal cerebellum morphology Rigidity Apathy Mental deterioration Language impairment Intellectual disability Abnormal lower motor neuron morphology Cerebellar atrophy Sensory impairment Hearing impairment Fatigue Unsteady gait Peripheral axonal neuropathy Abnormal pyramidal sign Foot dorsiflexor weakness Alzheimer disease Disinhibition Speech apraxia Muscular hypotonia of the trunk Cerebellar hypoplasia Feeding difficulties Generalized hypotonia Poor head control Generalized tonic-clonic seizures Areflexia of lower limbs Polymicrogyria Generalized-onset seizure Onion bulb formation Steppage gait Spontaneous abortion Pseudobulbar signs Opisthotonus Abnormality of the nervous system Frontotemporal cerebral atrophy Personality disorder Progressive spastic paraparesis Dysgraphia Primitive reflex Abnormality of peripheral nerve conduction Bulbar signs Brisk reflexes Incoordination Spastic paraparesis Paraparesis Abnormality of extrapyramidal motor function Abnormality of the cerebral white matter Motor delay Poor eye contact Frontal lobe dementia Distal amyotrophy Akinesia Abnormality of mitochondrial metabolism Ragged-red muscle fibers Proximal muscle weakness Myopathy Ptosis Sensorineural hearing impairment Sulfite oxidase deficiency Molybdenum cofactor deficiency Increased urinary taurine Hypouricemia Hypoplasia of the pons Frequent falls Ankle clonus Falls Tremor Postural instability Polyneuropathy Abnormality of eye movement Aggressive behavior Gait ataxia Myoclonus Depressivity Dystonia Strabismus Bradykinesia Nystagmus Sensorimotor neuropathy Absence seizures Brain atrophy Postnatal growth retardation Intrauterine growth retardation Failure to thrive Growth delay Microcephaly Tetraplegia Spastic tetraplegia Abnormality of the foot Spastic gait Distal muscle weakness Flexion contracture Pain Echolalia Progressive muscle weakness Irritability Behavioral abnormality Progressive spasticity Lower limb hyperreflexia Intellectual disability, mild Hallucinations Abnormal caudate nucleus morphology Upgaze palsy Parkinsonism with favorable response to dopaminergic medication Myokymia Neurogenic bladder Supranuclear gaze palsy Diffuse cerebral atrophy Resting tremor Postural tremor Akinetic mutism



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