Abnormal facial shape, and Amyotrophic lateral sclerosis

Diseases related with Abnormal facial shape and Amyotrophic lateral sclerosis

In the following list you will find some of the most common rare diseases related to Abnormal facial shape and Amyotrophic lateral sclerosis that can help you solving undiagnosed cases.


Top matches:

Medium match SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1


Kennedy disease is an X-linked recessive form of spinal muscular atrophy. It occurs only in men. Age at onset is usually in the third to fifth decade of life, but earlier involvement has been reported. The disorder is characterized by slowly progressive limb and bulbar muscle weakness with fasciculations, muscle atrophy, and gynecomastia (Harding et al., 1982). The disorder is clinically similar to, but genetically distinct from, classic forms of autosomal spinal muscular atrophy (see, e.g., SMA1; {253300}).

SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1 Is also known as kd|bulbospinal neuronopathy, x-linked recessive|xbsn|spinal and bulbar muscular atrophy|kennedy disease|bulbospinal muscular atrophy, x-linked|sbma|kennedy spinal and bulbar muscular atrophy

Related symptoms:

  • Ataxia
  • Muscle weakness
  • Muscular hypotonia
  • Pain
  • Peripheral neuropathy


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1; SMAX1

Low match PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B


Pontocerebellar hypoplasia type 1B is a severe autosomal recessive neurologic disorder characterized by a combination of cerebellar and spinal motor neuron degeneration beginning at birth. There is diffuse muscle weakness, progressive microcephaly, global developmental delay, and brainstem involvement (summary by Wan et al., 2012). PCH1B can be divided into mild, moderate, and severe subgroups that vary in age at onset, progression, clinical and neuroradiologic severity, and survival (summary by Halevy et al., 2014).For a phenotypic description and a discussion of genetic heterogeneity of PCH, see PCH1A (OMIM ).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: OMIM MENDELIAN

More info about PONTOCEREBELLAR HYPOPLASIA, TYPE 1B; PCH1B

Low match CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME


Corpus callosum agenesis-neuronopathy syndrome is a neurodegenerative disorder characterized by severe progressive sensorimotor neuropathy beginning in infancy with resulting hypotonia, areflexia, amyotrophy and variable degrees of dysgenesis of the corpus callosum. Additional features include mild-to-severe intellectual and developmental delays, and psychiatric manifestations that include paranoid delusions, depression, hallucinations, and "autistic-like" features. Affected individuals are usually wheelchair restricted in the second decade of life and die in the third decade of life. The disease is inherited as an autosomal recessive trait.

CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME Is also known as andermann syndrome|charlevoix disease|polyneuropathy, sensorimotor, with or without agenesis of the corpus callosum|corpus callosum, agenesis of, with neuronopathy

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Microcephaly


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about CORPUS CALLOSUM AGENESIS-NEURONOPATHY SYNDROME

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Other less relevant matches:

Low match AMYOTROPHIC LATERAL SCLEROSIS 23; ALS23


Related symptoms:

  • Dementia
  • Pallor
  • Neuronal loss in central nervous system
  • Amyotrophic lateral sclerosis


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 23; ALS23

Low match AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS22


Related symptoms:

  • Dementia
  • Mental deterioration
  • Amyotrophic lateral sclerosis
  • Frontotemporal dementia
  • Abnormal lower motor neuron morphology


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 22 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA; ALS22

Low match AMYOTROPHIC LATERAL SCLEROSIS 20; ALS20


Related symptoms:

  • Muscular dystrophy
  • Elevated alkaline phosphatase
  • Amyotrophic lateral sclerosis
  • Rimmed vacuoles
  • Muscle fiber inclusion bodies


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 20; ALS20

Low match AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11


Related symptoms:

  • Skeletal muscle atrophy
  • Amyotrophic lateral sclerosis
  • Bulbar signs
  • Upper motor neuron dysfunction


SOURCES: OMIM MESH MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 11; ALS11

Low match AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM-DEMENTIA COMPLEX


Amyotrophic lateral sclerosis-parkinsonism/dementia complex of Guam is a neurodegenerative disorder with unusually high incidence among the Chamorro people of Guam. Both ALS and parkinsonism-dementia are chronic, progressive, and uniformly fatal disorders in this population. Both diseases are known to occur in the same kindred, the same sibship, and even the same individual.

AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM-DEMENTIA COMPLEX Is also known as guam disease|als-pdc|parkinsonism-dementia-als complex|pdals|amyotrophic lateral sclerosis-parkinsonism-dementia of guam syndrome|amyotrophic lateral sclerosis-parkinsonism/dementia complex of guam|lytico-bodig disease

Related symptoms:

  • Muscle weakness
  • Dementia
  • Paralysis
  • Muscle cramps
  • Parkinsonism


SOURCES: OMIM ORPHANET MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS-PARKINSONISM-DEMENTIA COMPLEX

Low match AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16


Related symptoms:

  • Muscle weakness
  • Spasticity
  • Hyperreflexia
  • Paralysis
  • Lower limb spasticity


SOURCES: OMIM MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 16, JUVENILE; ALS16

Low match AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9


Related symptoms:

  • Spasticity
  • Dementia
  • Distal muscle weakness
  • Distal amyotrophy
  • Parkinsonism


SOURCES: OMIM MESH MENDELIAN

More info about AMYOTROPHIC LATERAL SCLEROSIS 9; ALS9

Top 5 symptoms//phenotypes associated to Abnormal facial shape and Amyotrophic lateral sclerosis

Symptoms // Phenotype % cases
Muscle weakness Uncommon - Between 30% and 50% cases
Abnormal lower motor neuron morphology Uncommon - Between 30% and 50% cases
Dementia Uncommon - Between 30% and 50% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases
Bulbar palsy Uncommon - Between 30% and 50% cases
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Other less frequent symptoms

Patients with Abnormal facial shape and Amyotrophic lateral sclerosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases


Spasticity Tremor Areflexia

Rare Symptoms - Less than 30% cases


Intellectual disability Motor neuron atrophy Tongue atrophy Abnormal anterior horn cell morphology Bulbar signs Axonal loss Global developmental delay Seizures Strabismus Generalized hypotonia Microcephaly Nystagmus Fasciculations Flexion contracture Feeding difficulties Motor delay Hyperreflexia Distal amyotrophy Spinal muscular atrophy Limb tremor Paralysis Pneumonia Sensory neuropathy Peripheral neuropathy Parkinsonism Limb muscle weakness Muscular dystrophy Frontotemporal dementia Facial asymmetry Muscle cramps Difficulty walking Abnormal cerebellum morphology Intention tremor Progressive muscle weakness Inability to walk Tapered finger Long face Peripheral axonal neuropathy Polyneuropathy Abnormality of the cerebral white matter Craniosynostosis Respiratory tract infection Developmental regression Hypoplasia of the maxilla Tetraplegia Esotropia Facial palsy Decreased sensory nerve conduction velocity Neonatal hypotonia Myopia Retrocerebellar cyst Scoliosis Abnormal upper motor neuron morphology Hypertelorism Ptosis High palate Wide nasal bridge Optic atrophy EEG abnormality Ventriculomegaly Intellectual disability, severe Intellectual disability, mild Short nose Agenesis of corpus callosum Brachycephaly Macrotia Lower limb spasticity Rimmed vacuoles Narrow forehead 2-3 toe syndactyly Diffuse white matter abnormalities EMG: chronic denervation signs Progressive peripheral neuropathy Motor polyneuropathy Restrictive deficit on pulmonary function testing Aqueductal stenosis Demyelinating peripheral neuropathy Facial diplegia Increased CSF protein Turricephaly Onion bulb formation Partial agenesis of the corpus callosum Pallor Infantile spasms Decreased motor nerve conduction velocity Upper motor neuron dysfunction Neuronal loss in central nervous system Muscle fiber inclusion bodies Spastic tetraplegia Axonal degeneration/regeneration Elevated alkaline phosphatase Psychosis Mental deterioration Abnormality of retinal pigmentation Hemiplegia/hemiparesis Sensorimotor neuropathy Low anterior hairline Paraparesis Talipes valgus CNS hypomyelination Decreased nerve conduction velocity Ataxia Retinal dystrophy Atrophy of the spinal cord Hand tremor Impotence Decreased fertility Muscle fibrillation Abnormality of lipid metabolism Overweight Abnormality of the mouth Aspiration pneumonia Limb-girdle muscular dystrophy Distal lower limb amyotrophy Oligospermia Kinetic tremor Testicular atrophy Hyperlipoproteinemia Decreased LDL cholesterol concentration Calf muscle hypertrophy Dysphonia Erectile abnormalities Hyporeflexia Muscular hypotonia Pain Dysarthria Gait disturbance Dysphagia Myopathy Elevated serum creatine phosphokinase Hyperlipidemia Proximal muscle weakness Myalgia Infertility Neurodegeneration Type II diabetes mellitus Gynecomastia Aspiration Exercise-induced muscle cramps Laryngospasm Cerebellar cyst Congenital contracture Apraxia Progressive microcephaly Oculomotor apraxia Cone/cone-rod dystrophy Poor head control Adducted thumb Hypoplasia of the brainstem Gliosis Brisk reflexes Global brain atrophy Gaze-evoked nystagmus Weak cry Hypoplasia of the pons Tongue fasciculations Degeneration of anterior horn cells Brain atrophy Dysmetria Proximal spinal muscular atrophy Absent speech Growth delay Cognitive impairment Visual impairment Respiratory insufficiency Cerebellar atrophy Cerebral atrophy Cerebellar hypoplasia Talipes Respiratory failure Muscular hypotonia of the trunk Hip dislocation Severe global developmental delay Spastic paraplegia Abnormality of the foot Paraplegia Distal muscle weakness



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