Failure to thrive, and Amyotrophic lateral sclerosis

Diseases related with Failure to thrive and Amyotrophic lateral sclerosis

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

Top matches:

Fazio-Londe disease is a progressive bulbar palsy with onset in childhood that presents with hypotonia and respiratory insufficiency (summary by Bosch et al., 2011).

FAZIO-LONDE DISEASE Is also known as bulbar palsy, progressive, of childhood

Related symptoms:

  • Generalized hypotonia
  • Hearing impairment
  • Failure to thrive
  • Sensorineural hearing impairment
  • Muscle weakness


SOURCES: OMIM MENDELIAN

More info about FAZIO-LONDE DISEASE

Spinal muscular atrophy with respiratory distress type 1 is a rare genetic motor neuron disease characterized by severe respiratory distress/respiratory failure in association with diaphragmatic eventration and palsy, as well as progressive, symmetrical, distal-to-proximal muscle weakness and atrophy (in lower limbs especially). Patients typically have a history of intrauterine growth retardation, low birth weight, feeble cry, weak suck and failure to thrive and present with inspiratory stridor, recurrent episodes of dyspnea or apnea, cyanosis and absent deep tendon reflexes. Kyphosis/scoliosis, foot deformities and joint contractures are frequently associated features.

SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1 Is also known as dhmn6|hmn6|neuronopathy, distal hereditary motor, type vi|spinal muscular atrophy, diaphragmatic|autosomal recessive distal spinal muscular atrophy type 1|autosomal recessive spinal muscular atrophy with respiratory distress|dsma1|distal-hmn type 6|diaphr

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Muscular hypotonia


SOURCES: ORPHANET OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH RESPIRATORY DISTRESS TYPE 1

High match PERRY SYNDROME

Perry syndrome is a rare inherited neurodegenerative disorder characterized by rapidly progressive early-onset parkinsonism, central hypoventilation, weight loss, insomnia and depression.

PERRY SYNDROME Is also known as parkinsonism with alveolar hypoventilation and mental depression

Related symptoms:

  • Dysarthria
  • Tremor
  • Respiratory insufficiency
  • Behavioral abnormality
  • Abnormality of metabolism/homeostasis


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about PERRY SYNDROME

Other less relevant matches:

X-linked distal arthrogryposis multiplex congenital (SMAX2) is a rare form of spinal muscular atrophy characterized by the neonatal onset of severe hypotonia, areflexia, profound weakness, multiple congenital contractures, facial dysmorphic features (myopathic face with open, tent-shaped mouth), cryptorchidism, and mild skeletal abnormalities (i.e. kyphosis, scoliosis), that is often preceded by polyhydramnios and reduced fetal movements in utero and followed by bone fractures shortly after birth. SMAX2 patients often have a limited life span, often succumbing to the disease within 2 years, as muscle weakness is progressive and chest muscle involvement eventually leads to ventilatory insufficiency and respiratory failure.

INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY Is also known as smax2|amc, distal, x-linked|arthrogryposis, x-linked, type i|spinal muscular atrophy, infantile x-linked|x-linked spinal muscular atrophy type 2|spinal muscular atrophy, x-linked lethal infantile|spinal muscular atrophy with arthrogryposis|x-linked distal

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Scoliosis
  • Micrognathia
  • Strabismus


SOURCES: ORPHANET OMIM MESH MENDELIAN

More info about INFANTILE-ONSET X-LINKED SPINAL MUSCULAR ATROPHY

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

Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome is a rare, genetic, non-acquired, combined pituitary hormone deficiency disorder characterized by panhypopituitarism (with or without ACTH deficiency) associated with spine abnormalities, including frequent rigid cervical spine and short neck with limited rotation, and variable degrees of sensorineural hearing loss. The anterior pituitary gland is usually abnormal (typically hypoplastic) and rarely a mild developmental delay or intellectual disability may be associated.

NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME Is also known as deafness, sensorineural, with pituitary dwarfism|non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome|pituitary hormone deficiency, combined, with rigid cervical spine

Related symptoms:

  • Intellectual disability
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Growth delay


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about NON-ACQUIRED COMBINED PITUITARY HORMONE DEFICIENCY-SENSORINEURAL HEARING LOSS-SPINE ABNORMALITIES SYNDROME

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

Fetal akinesia-cerebral and retinal hemorrhage syndrome is a rare, lethal, congenital myopathy syndrome characterized by decreased fetal movements and polyhydraminos in utero and the presence of akinesia, severe hypotonia with respiratory insufficiency, absent reflexes, joint contractures, skeletal abnormalities with thin ribs and bones, intracranial and retinal hemorrhages and decreased birth weight in the neonate.

FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME Is also known as myopathy, centronuclear, lethal, autosomal recessive|lethal congenital contracture syndrome type 5|lccs5

Related symptoms:

  • Generalized hypotonia
  • Flexion contracture
  • Peripheral neuropathy
  • Respiratory insufficiency
  • Myopathy


SOURCES: OMIM ORPHANET MENDELIAN

More info about FETAL AKINESIA-CEREBRAL AND RETINAL HEMORRHAGE SYNDROME

Microcephalic primordial dwarfism due to ZNF335 deficiency is characterized by severe antenatal microencephaly, simplified gyration, agenesis of the corpus callosum, absence of basal ganglia (very rare), pontocerebellar atrophy and involvement of the white matter with secondary cerebral atrophy. Congenital cataract, choanal atresia, multiple arthrogryposis and spastic tetraparesis can occur.

MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY Is also known as microcephalic primordial dwarfism, walsh type

Related symptoms:

  • Microcephaly
  • Micrognathia
  • Cataract
  • Spasticity
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about MICROCEPHALIC PRIMORDIAL DWARFISM DUE TO ZNF335 DEFICIENCY

Top 5 symptoms//phenotypes associated to Failure to thrive and Amyotrophic lateral sclerosis

Symptoms // Phenotype % cases
Generalized hypotonia Common - Between 50% and 80% cases
Respiratory insufficiency Uncommon - Between 30% and 50% cases
Muscle weakness Uncommon - Between 30% and 50% cases
Flexion contracture Uncommon - Between 30% and 50% cases
Myopathy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Failure to thrive and Amyotrophic lateral sclerosis. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Skeletal muscle atrophy Intrauterine growth retardation Peripheral neuropathy Muscular hypotonia Growth delay Decreased fetal movement Intellectual disability Microcephaly Spinal muscular atrophy Seizures Progressive muscle weakness Areflexia Small for gestational age Cerebral atrophy

Rare Symptoms - Less than 30% cases

Decreased nerve conduction velocity Neuronal loss in central nervous system Limb muscle weakness Gait disturbance Congenital contracture Abnormal cerebellum morphology Tremor Dysarthria Short neck Hypoventilation Elevated serum creatine phosphokinase Kyphosis Arthrogryposis multiplex congenita Degeneration of anterior horn cells Hearing impairment Camptodactyly of finger Severe muscular hypotonia Gliosis Strabismus Ventriculomegaly Inspiratory stridor Sensorineural hearing impairment Ptosis Dysphagia Facial palsy Paralysis Brain atrophy Bulbar palsy Respiratory failure Diaphragmatic paralysis Global developmental delay Diaphragmatic weakness Micrognathia Hyporeflexia Proximal spinal muscular atrophy Abnormality of metabolism/homeostasis Pain Micropenis Sensory neuropathy Difficulty walking Proximal muscle weakness Facial asymmetry Pneumonia Infertility Neurodegeneration Ataxia Muscular dystrophy Myalgia Thoracic kyphosis Hypothalamic luteinizing hormone-releasing hormone deficiency Hyperextensible skin Jaundice Hyperlordosis Carious teeth Joint hypermobility Growth hormone deficiency Cyanosis Small nail Increased body weight Hypopituitarism Lumbar kyphosis Pituitary hypothyroidism Panhypopituitarism Adrenocorticotropic hormone deficiency Gonadotropin deficiency Anterior pituitary hypoplasia Prolactin deficiency Abnormal anterior horn cell morphology Thoracolumbar kyphoscoliosis Pituitary dwarfism Muscle cramps Aspiration pneumonia Type II diabetes mellitus Severe global developmental delay Laryngospasm Polyhydramnios Thin ribs Centrally nucleated skeletal muscle fibers Abnormal lower motor neuron morphology Retinal hemorrhage Cataract Spasticity Cerebellar atrophy Prominent nasal bridge Delayed myelination Exercise-induced muscle cramps Sloping forehead Choanal atresia Cortical gyral simplification Profound global developmental delay Small cerebral cortex Abnormality of the cerebrum Abnormality of the cerebral cortex Abnormal neuron morphology Coarse facial features Intellectual disability, profound Arachnoid cyst Erectile abnormalities Motor neuron atrophy Intention tremor Abnormality of lipid metabolism Gynecomastia Fasciculations Aspiration Hyperlipidemia Dysphonia Limb-girdle muscular dystrophy Calf muscle hypertrophy Impotence Decreased fertility Muscle fibrillation Axonal loss Overweight Limb tremor Abnormality of the mouth Hand tremor Severe short stature Bulbar signs Distal lower limb amyotrophy Oligospermia Kinetic tremor Testicular atrophy Hyperlipoproteinemia Decreased LDL cholesterol concentration Tongue atrophy Skeletal dysplasia Wide intermamillary distance Abnormality of the skeletal system Behavioral abnormality Weak cry Recurrent lower respiratory tract infections EMG: neuropathic changes Diaphragmatic eventration Nocturnal hypoventilation Peripheral axonal degeneration Ventilator dependence with inability to wean Denervation of the diaphragm Depressivity Tachypnea Dementia Weight loss Rigidity Abnormality of eye movement Sleep disturbance Postural instability Parkinsonism Hypotension Bradykinesia Axonal degeneration Premature birth Apathy Feeding difficulties Hyperreflexia Generalized muscle weakness Bilateral ptosis Stridor Oral-pharyngeal dysphagia Facial diplegia Axial muscle weakness Generalized hyperreflexia Progressive inspiratory stridor Motor delay Urinary incontinence Talipes equinovarus Respiratory distress Constipation Hyperhidrosis Distal muscle weakness Abnormality of the foot Lower limb muscle weakness Peripheral axonal neuropathy Distal amyotrophy Abnormality of extrapyramidal motor function Personality changes Delayed speech and language development Proximal placement of thumb Hypoplasia of penis Interphalangeal joint contracture of finger Open mouth Bilateral single transverse palmar creases Abnormality of the fingernails Respiratory insufficiency due to muscle weakness Adducted thumb Failure to thrive in infancy Myopathic facies Dolichocephaly Multiple joint contractures Thickened nuchal skin fold Tongue fasciculations Microphallus Skin dimples Hypertonia Postnatal growth retardation Absence seizures Short stature Narrow chest Joint stiffness Mask-like facies Inappropriate behavior Resting tremor Insomnia Frontotemporal dementia Lewy bodies Gait imbalance Respiratory arrest Central hypoventilation Weak voice Vertical supranuclear gaze palsy Short stepped shuffling gait Macrotia Scoliosis Cryptorchidism Cognitive impairment Wide nasal bridge Short nose Long philtrum Hernia Hypospadias Inguinal hernia Appendicular hypotonia


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