Skeletal muscle atrophy, and Brain atrophy

Diseases related with Skeletal muscle atrophy and Brain atrophy

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


Top matches:

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67


Autosomal recessive spastic paraplegia type 67 is an extremely rare, complex hereditary spastic paraplegia characterized by an infancy or childhood onset of global developmental delay and progressive spasticity with tremor in the distal limbs, increased deep tendon reflexes and extensor plantar responses, which may be associated with mild intellectual disability. Additional features include muscle wasting and cerebellar abnormalities.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67 Is also known as spg67

Related symptoms:

  • Global developmental delay
  • Hyperreflexia
  • Intellectual disability, mild
  • Babinski sign
  • Agenesis of corpus callosum


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 67

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

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Other less relevant matches:

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 PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C


Pontocerebellar hypoplasia type 1C is a severe autosomal recessive neurodegenerative disorder characterized by severe muscle weakness and failure to thrive apparent in the first months of life. Affected infants showed delayed psychomotor development, often with visual and hearing impairment, and may die of respiratory failure. Brain imaging typically shows cerebellar hypoplasia, hypoplasia of the corpus callosum, and immature myelination (summary by Boczonadi et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C Is also known as hypomyelination with spinal muscular atrophy and cerebellar hypoplasia

Related symptoms:

  • Global developmental delay
  • Hearing impairment
  • Failure to thrive
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1C; PCH1C

Low match AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 38


AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 38 Is also known as spg38

Related symptoms:

  • Seizures
  • Spasticity
  • Cognitive impairment
  • Hyperreflexia
  • Gait disturbance


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT SPASTIC PARAPLEGIA TYPE 38

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78


AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78 Is also known as spg78

Related symptoms:

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


SOURCES: ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 78

Low match INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME


Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Scoliosis
  • Strabismus


SOURCES: ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY-HYPERKINETIC MOVEMENT-TRUNCAL ATAXIA SYNDROME

Low match KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME


KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME Is also known as kyphoscoliosis-lateral tongue atrophy-hsp syndrome

Related symptoms:

  • Intellectual disability
  • Pain
  • Dysphagia
  • Talipes equinovarus
  • Cerebellar atrophy


SOURCES: ORPHANET MENDELIAN

More info about KYPHOSCOLIOSIS-LATERAL TONGUE ATROPHY-HEREDITARY SPASTIC PARAPLEGIA SYNDROME

Low match AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75


Autosomal recessive spastic paraplegia type 75 is a rare, complex hereditary spastic paraplegia characterized by an early onset and slow progression of spastic paraplegia associated with cerebellar signs, nystagmus, peripheral neuropathy, extensor plantar responses and borderline to mild intellectual disability. Additional features of hypo- or areflexia, mild upper limb involvement and significant visual impairment (optic atrophy, vision loss, astigmatism) have been reported.

AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75 Is also known as spg75

Related symptoms:

  • Intellectual disability
  • Global developmental delay
  • Generalized hypotonia
  • Nystagmus
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE SPASTIC PARAPLEGIA TYPE 75

Top 5 symptoms//phenotypes associated to Skeletal muscle atrophy and Brain atrophy

Symptoms // Phenotype % cases
Cognitive impairment Uncommon - Between 30% and 50% cases
Babinski sign Uncommon - Between 30% and 50% cases
Hyperreflexia Uncommon - Between 30% and 50% cases
Cerebral cortical atrophy Uncommon - Between 30% and 50% cases
Global developmental delay Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Skeletal muscle atrophy and Brain atrophy. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Difficulty walking Dementia Hyporeflexia Progressive spastic paraplegia Dysarthria Abnormal pyramidal sign Cerebral atrophy Muscle weakness Dysphagia Cerebellar atrophy Intellectual disability Spastic gait Lower limb spasticity

Rare Symptoms - Less than 30% cases


Disinhibition Areflexia of lower limbs Progressive pes cavus Peripheral axonal neuropathy Hypoplasia of the corpus callosum Pes cavus Areflexia Peripheral neuropathy Flexion contracture Pain Hearing impairment Strabismus Foot dorsiflexor weakness Seizures Speech apraxia Apathy Spastic paraplegia Apraxia Fasciculations Mutism Abnormal lower motor neuron morphology Language impairment Personality changes Paraplegia Amyotrophic lateral sclerosis Bulbar palsy Frontotemporal dementia Spasticity Toe walking Lower limb hyperreflexia Difficulty running Delayed gross motor development Knee flexion contracture Muscle cramps EMG: axonal abnormality Kyphoscoliosis Myalgia Talipes equinovarus Exercise-induced muscle fatigue Right ventricular dilatation Progressive proximal muscle weakness Restrictive ventilatory defect Limb-girdle muscular dystrophy Hyperkinesis Myopathy Infantile muscular hypotonia Truncal ataxia Chorea Cataract Myopia Scoliosis Intellectual disability, moderate Lower limb amyotrophy Astigmatism Impaired distal vibration sensation Hyporeflexia of lower limbs Titubation Spastic dysarthria Corpus callosum atrophy Distal lower limb amyotrophy Impaired vibratory sensation Spastic paraparesis Paraparesis Leukodystrophy Clonus Abnormal cerebellum morphology Neurodegeneration Dysmetria Hypermetropia Tongue atrophy Abnormality of the cerebral white matter Facial myokymia Neonatal hypotonia Reduced visual acuity Glaucoma Hypertonia Ventriculomegaly Optic atrophy Nystagmus Generalized hypotonia Upper limb amyotrophy Abnormal levels of creatine kinase in blood Proximal muscle weakness in upper limbs Difficulty standing Progressive extrapyramidal movement disorder Peroneal muscle atrophy Progressive spastic quadriplegia Abnormality of the foot Cerebellar hypoplasia Visual impairment Feeding difficulties Failure to thrive Onion bulb formation Steppage gait Frequent falls Sensory impairment Distal sensory impairment Distal amyotrophy Falls Unsteady gait Distal muscle weakness Cerebellar vermis hypoplasia Echolalia Progressive muscle weakness Irritability Behavioral abnormality Alzheimer disease Aplasia/Hypoplasia of the cerebellar vermis Limb tremor Abnormal myelination Generalized amyotrophy Abnormality of movement Agenesis of corpus callosum Intellectual disability, mild Respiratory failure Tetraparesis Neurogenic bladder Abnormal lower-limb motor evoked potentials Supranuclear gaze palsy Progressive gait ataxia Abnormality of the periventricular white matter Sensory axonal neuropathy Horizontal nystagmus Hallucinations Progressive cerebellar ataxia Dystonia Amyotrophy of ankle musculature First dorsal interossei muscle weakness First dorsal interossei muscle atrophy Thenar muscle weakness Frontotemporal cerebral atrophy Spastic tetraparesis Spinal cord lesion Thenar muscle atrophy Abnormality of the cerebrospinal fluid Degeneration of the lateral corticospinal tracts Distal lower limb muscle weakness Impaired vibration sensation in the lower limbs EMG abnormality Urinary incontinence Small hand Lower limb muscle weakness Gait disturbance Spinal muscular atrophy Temporal optic disc pallor



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