Muscular hypotonia, and Spinal muscular atrophy

Diseases related with Muscular hypotonia and Spinal muscular atrophy

In the following list you will find some of the most common rare diseases related to Muscular hypotonia and Spinal muscular atrophy that can help you solving undiagnosed cases.

Top matches:

Young adult-onset distal hereditary motor neuropathy is a rare autosomal recessive distal hereditary motor neuropathy characterized by slowly progressive muscular weakness, hypotonia and atrophy of the lower limbs, more pronounced distally, leading to paralysis, and loss of tendon reflexes. Additional features may include pes cavus and mild dysphonia. The upper limbs are relatively spared.

YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY Is also known as young adult-onset dhmn|autosomal recessive distal spinal muscular atrophy type 5|dsma5

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • Peripheral neuropathy
  • Skeletal muscle atrophy
  • Gait disturbance


SOURCES: ORPHANET OMIM MENDELIAN

More info about YOUNG ADULT-ONSET DISTAL HEREDITARY MOTOR NEUROPATHY

PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy (summary by Sferra et al., 2016).

Related symptoms:

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


SOURCES: OMIM ORPHANET MENDELIAN

More info about EARLY-ONSET PROGRESSIVE ENCEPHALOPATHY-SPASTIC ATAXIA-DISTAL SPINAL MUSCULAR ATROPHY SYNDROME

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Muscle weakness
  • Flexion contracture
  • Peripheral neuropathy


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 2; SMABF2

Other less relevant matches:

Autosomal dominant congenital benign spinal muscular atrophy is a rare distal hereditary motor neuropathy, with a variable clinical phenotype, typically characterized by congenital, non-progressive, predominantly distal, lower limb muscle weakness and atrophy and congenital (or early-onset) flexion contractures of the hip, knee and ankle joints. Reduced or absent lower limb deep tendon reflexes, skeletal anomalies (bilateral talipes equinovarus, scoliosis, kyphoscoliosis, lumbar hyperlordisis), late ambulation, waddling gait, joint hyperlaxity and/or bladder and bowel dysfuntion are usually also associated.

AUTOSOMAL DOMINANT CONGENITAL BENIGN SPINAL MUSCULAR ATROPHY Is also known as autosomal dominant benign distal spinal muscular atrophy|spinal muscular atrophy, distal, congenital nonprogressive|dhmn8|neuropathy, distal hereditary motor, type viii|spinal muscular atrophy, congenital benign, with contractures|congenital benign spinal

Related symptoms:

  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture
  • Motor delay


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT CONGENITAL BENIGN SPINAL MUSCULAR ATROPHY

Proximal spinal muscular atrophy type 1 (SMA1) is a severe infantile form of proximal spinal muscular atrophy (see this term) characterized by severe and progressive muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei.

PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1 Is also known as muscular atrophy, infantile|sma type 1|sma-i|infantile spinal muscular atrophy|sma, infantile acute form|sma1|werdnig-hoffmann disease|sma i|sma type i

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about PROXIMAL SPINAL MUSCULAR ATROPHY TYPE 1

Spinal muscular atrophy-progressive myoclonic epilepsy syndrome is characterized by hereditary myoclonus and progressive distal muscular atrophy. Less than 10 cases have been reported. Treatment with clonazepam results in complete and lasting improvement of the myoclonus.

SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME Is also known as hereditary myoclonus-progressive distal muscular atrophy syndrome|jankovic-rivera syndrome|myoclonus, hereditary, with progressive distal muscular atrophy

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Sensorineural hearing impairment


SOURCES: ORPHANET MESH OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY-PROGRESSIVE MYOCLONIC EPILEPSY SYNDROME

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

Spinal muscular atrophy with congenital bone fractures is an autosomal recessive severe neuromuscular disorder characterized by onset of severe hypotonia in utero. This results in congenital contractures, consistent with arthrogryposis multiplex congenita, and increased incidence of prenatal fracture of the long bones. Affected infants have difficulty breathing and feeding and often die in the first months or years of life (summary by Knierim et al., 2016). Genetic Heterogeneity of Spinal Muscular Atrophy With Congenital Bone FracturesSee also SMABF2 (OMIM ), caused by mutation in the ASCC1 gene (OMIM ) on chromosome 10q22.

Related symptoms:

  • Global developmental delay
  • Generalized hypotonia
  • Hypertelorism
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about SPINAL MUSCULAR ATROPHY WITH CONGENITAL BONE FRACTURES 1; SMABF1

Intellectual disability, Birk-Barel type is a rare, genetic, syndromic intellectual disability characterized by congenital central hypotonia, developmental delay, moderate to severe intellectual disability and subtle dysmorphic features which evolve over time (dolichocephaly, myopathic facies, ptosis, short and broad philtrum, tented upper lip vermillion, palatal anomalies, mild micro- and/or retrognathia). Patients present reduced facial movements, lethargy, weak cry, transient neonatal hypoglycemia, severe feeding difficulties and failure to thrive. Dysphagia, particularly of solid food, asthenic body build, joint contractures and scoliosis are additional features.

INTELLECTUAL DISABILITY, BIRK-BAREL TYPE Is also known as intellectual disability-hypotonia-facial dysmorphism syndrome|birk-barel mental retardation dysmorphism syndrome|mental retardation with hypotonia and facial dysmorphism

Related symptoms:

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


SOURCES: MESH OMIM ORPHANET MENDELIAN

More info about INTELLECTUAL DISABILITY, BIRK-BAREL TYPE

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Spinal muscular atrophy

Symptoms // Phenotype % cases
Skeletal muscle atrophy Very Common - Between 80% and 100% cases
Generalized hypotonia Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Peripheral axonal neuropathy Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with Muscular hypotonia and Spinal muscular atrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Peripheral neuropathy

Uncommon Symptoms - Between 30% and 50% cases

Areflexia Global developmental delay Decreased fetal movement Respiratory failure Respiratory distress Severe muscular hypotonia Respiratory insufficiency Scoliosis Arthrogryposis multiplex congenita Premature birth Seizures Distal amyotrophy Proximal muscle weakness Paralysis Dysphagia Pes cavus Distal muscle weakness Limb muscle weakness Degeneration of anterior horn cells Lower limb muscle weakness Dysphonia

Rare Symptoms - Less than 30% cases

Abnormal cardiac septum morphology Progressive muscle weakness Patent ductus arteriosus Feeding difficulties Pulmonary hypoplasia Generalized amyotrophy Oral-pharyngeal dysphagia Patent foramen ovale Neonatal respiratory distress Axonal loss Increased variability in muscle fiber diameter Axonal degeneration Fractures of the long bones Babinski sign Multiple prenatal fractures Motor delay Talipes equinovarus Hyporeflexia High palate Diaphragmatic eventration Tongue fasciculations EMG: neuropathic changes Hyperlordosis Recurrent respiratory infections Motor axonal neuropathy Foot dorsiflexor weakness Gait disturbance Difficulty walking Intellectual disability Growth delay Camptodactyly of finger Small for gestational age Abnormality of the foot Urinary incontinence Iron accumulation in substantia nigra Tachypnea Hyperhidrosis Weak cry Hypoventilation Recurrent lower respiratory tract infections Diaphragmatic paralysis Inspiratory stridor Decreased nerve conduction velocity Intrauterine growth retardation Constipation Gowers sign Frequent falls Sensory impairment Fasciculations EMG abnormality Absence seizures Respiratory insufficiency due to muscle weakness Sensory neuropathy Nocturnal hypoventilation Loss of consciousness Distal sensory impairment Atonic seizures Progressive distal muscular atrophy Failure to thrive Pain Paresthesia Diaphragmatic weakness Ventilator dependence with inability to wean Peripheral axonal degeneration High, narrow palate Neonatal hypotonia Feeding difficulties in infancy Short philtrum Dolichocephaly Poor speech Thick eyebrow Highly arched eyebrow Retrognathia Broad nasal tip Narrow forehead Sacral dimple Tented upper lip vermilion Neonatal hypoglycemia Broad eyebrow Tented philtrum Hypoglycemia Hyperactivity Generalized-onset seizure Hypohidrosis Denervation of the diaphragm Hypertelorism Cardiomyopathy Congestive heart failure Narrow mouth Oligohydramnios Microretrognathia Depressivity Congenital contracture Secundum atrial septal defect Muscle fiber atrophy Micrognathia Abnormal facial shape Cleft palate Intellectual disability, severe Bilateral sensorineural hearing impairment Unsteady gait Generalized myoclonic seizures Talipes Optic atrophy Elevated serum creatine phosphokinase Pes planus Dysarthria Cognitive impairment Joint stiffness Limitation of joint mobility Hypoplasia of the corpus callosum Waddling gait Lumbar hyperlordosis Elbow flexion contracture Knee flexion contracture Scapular winging Laryngomalacia Kyphosis Cerebellar atrophy Stridor Progressive encephalopathy Difficulty standing Anarthria Polyhydramnios Progressive spastic paraparesis Spastic ataxia Hypoparathyroidism Mutism Encephalopathy Spastic tetraparesis Spastic tetraplegia Focal-onset seizure Abnormal cortical gyration Tetraplegia Developmental regression Cachexia Bilateral talipes equinovarus Falls Pneumonia Steppage gait Proximal muscle weakness in lower limbs Hearing impairment Sensorineural hearing impairment Hyperreflexia Tremor Dementia Proximal amyotrophy Myoclonus EEG abnormality Facial palsy Respiratory tract infection Neurological speech impairment EMG: chronic denervation signs Decreased number of large peripheral myelinated nerve fibers Peroneal muscle atrophy Hip contracture Atrial septal defect Areflexia of lower limbs Proximal lower limb amyotrophy Vocal cord paresis Nonprogressive muscular atrophy Abnormality of the skeletal system Ventricular septal defect Hernia Progressive distal muscle weakness Abnormal heart morphology Ataxia Umbilical hernia Joint laxity Muscular hypotonia of the trunk Tetraparesis Recurrent pneumonia Submucous cleft soft palate


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