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
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
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
More info about FRONTOTEMPORAL DEMENTIA AND/OR AMYOTROPHIC LATERAL SCLEROSIS 3; FTDALS3
Too many results?
We can help you with your rare disease diagnosis.
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 DLow 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
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 38Low 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
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
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
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 75Top 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 |
Accelerate your rare disease diagnosis with us
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
If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Abnormality of the skeletal system and Skin rash, related diseases and genetic alterations Fever and Leukoencephalopathy, related diseases and genetic alterations Lymphoma and Ulcerative colitis, related diseases and genetic alterations
Need help with a diagnosis?
Learn more about how to achieve it with Mendelian
