Muscular hypotonia, and Lumbar hyperlordosis

Diseases related with Muscular hypotonia and Lumbar hyperlordosis

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


Top matches:

Medium match CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT


Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Ptosis
  • Flexion contracture
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CONGENITAL MYASTHENIC SYNDROMES WITH GLYCOSYLATION DEFECT

Medium match MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14


Congenital myasthenic syndrome-14 is an autosomal recessive neuromuscular disorder characterized by onset of limb-girdle muscle weakness in early childhood. The disorder is slowly progressive, and some patients may become wheelchair-bound. There is no respiratory or cardiac involvement. Treatment with anticholinesterase medication may be beneficial (summary by Cossins et al., 2013).For a discussion of genetic heterogeneity of CMS, see CMS1A (OMIM ).

MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14 Is also known as cmsta3|myasthenic syndrome, congenital, with tubular aggregates 3

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Ptosis
  • Flexion contracture


SOURCES: OMIM MENDELIAN

More info about MYASTHENIC SYNDROME, CONGENITAL, 14; CMS14

Medium match CAP MYOPATHY


Cap myopathy is a very rare congenital myopathy presenting a weakness of facial and respiratory muscles associated with craniofacial and thoracic deformities, as well as weakness of limb proximal and distal muscles. Onset is at birth or in childhood, weakness progression is slow but may lead to a severe and even fatal prognosis.

CAP MYOPATHY Is also known as cap disease

Related symptoms:

  • Generalized hypotonia
  • Muscle weakness
  • High palate
  • Motor delay
  • Myopathy


SOURCES: MESH ORPHANET MENDELIAN

More info about CAP MYOPATHY

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Other less relevant matches:

Medium match AUTOSOMAL DOMINANT CONGENITAL BENIGN SPINAL MUSCULAR ATROPHY


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

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M


Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M Is also known as muscular dystrophy, limb-girdle, autosomal recessive 13|lgmdr13|muscular dystrophy, limb-girdle, type 2m|lgmd2m

Related symptoms:

  • Generalized hypotonia
  • Growth delay
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2M

Medium match MASA SYNDROME


MASA syndrome (Mental retardation, Aphasia, Spastic paraplegia, Adducted thumbs) is a historical term used to describe a phenotype now considered to be part of the X-linked L1 clinical spectrum (L1 syndrome, see this term). MASA is characterized by mild to moderate intellectual deficit, delayed development of speech, hypotonia progressing to spasticity or spastic paraplegia, adducted thumbs, and mild to moderate distension of the cerebral ventricles.

MASA SYNDROME Is also known as spastic paraplegia 1, x-linked|thumb, congenital clasped, with mental retardation|gareis-mason syndrome|intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome|clasped thumb and mental retardation|spg1|mental retardation, aphasia, shufflin

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Generalized hypotonia


SOURCES: OMIM ORPHANET MENDELIAN

More info about MASA SYNDROME

Medium match AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K


Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported.

AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K Is also known as muscular dystrophy, limb-girdle, type 2k|muscular dystrophy, limb-girdle, autosomal recessive 11|lgmd2k|limb-girdle muscular dystrophy-intellectual disability syndrome|lgmdr11

Related symptoms:

  • Intellectual disability
  • Microcephaly
  • Scoliosis
  • Muscle weakness
  • Flexion contracture


SOURCES: OMIM ORPHANET MENDELIAN

More info about AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2K

Medium match DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY


Developmental and speech delay due to SOX5 deficiency is a rare genetic syndromic intellectual disability characterized by mild to severe global developmental delay, intellectual disability and behavioral abnormalities, hypotonia, strabismus, optic nerve hypoplasia and mild facial dysmorphic features (down slanting palpebral fissures, frontal bossing, crowded teeth, auricular abnormalities and prominent philtral ridges). Other associated clinical features may include seizures and skeletal anomalies (kyphosis/scoliosis, pectus deformities).

Related symptoms:

  • Intellectual disability
  • Seizures
  • Scoliosis
  • Strabismus
  • Muscular hypotonia


SOURCES: ORPHANET MENDELIAN

More info about DEVELOPMENTAL AND SPEECH DELAY DUE TO SOX5 DEFICIENCY

Medium match EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1


Emery-Dreifuss muscular dystrophy is a degenerative myopathy characterized by weakness and atrophy of muscle without involvement of the nervous system. Flexion deformities of the elbows dating from early childhood, mild pectus excavatum, signs of cardiac involvement and absence of muscle pseudohypertrophy, involvement of the forearm muscles, and mental retardation distinguish the Emery-Dreifuss form (EDMD1) from the Becker form (OMIM ). Genetic Heterogeneity of Emery-Dreifuss Muscular DystrophyAutosomal dominant Emery-Dreifuss muscular dystrophy-2 (EDMD2 ), is caused by mutation in the lamin A/C gene (LMNA ); autosomal recessive EDMD3 (OMIM ) is also caused by mutation in the LMNA gene. Additional autosomal dominant forms include EDMD4 (OMIM ), caused by mutation in the SYNE1 gene (OMIM ), EDMD5 (OMIM ), caused by mutation in the SYNE2 gene (OMIM ), and EDMD7 (OMIM ), caused by mutation in the TMEM43 gene (OMIM ). A second X-linked form (EDMD6; see {300696}) is caused by mutation in the FHL1 gene (OMIM ).

EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1 Is also known as emd1|scapuloperoneal syndrome, x-linked, formerly|humeroperoneal neuromuscular disease, formerly|muscular dystrophy, tardive, dreifuss-emery type, with contractures

Related symptoms:

  • Intellectual disability
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Ptosis


SOURCES: OMIM ORPHANET MENDELIAN

More info about EMERY-DREIFUSS MUSCULAR DYSTROPHY 1, X-LINKED; EDMD1

Medium match NEMALINE MYOPATHY 1; NEM1


Nemaline myopathy-1 is a disorder characterized by muscle weakness, usually beginning in early childhood. The severity and pattern of muscle weakness varies, but most affected individuals show mildly delayed motor development, hypotonia, generalized muscle weakness, and weakness of the proximal limb muscles and neck muscles, resulting in difficulty running and easy fatigability. Most patients have respiratory insufficiency due to muscle weakness. Other common features include myopathic facies, high-arched palate, and scoliosis. Histologic findings on skeletal muscle biopsy are variable, even in patients with the same mutation. Muscle fibers can contain nemaline rod inclusions, or so-called subsarcolemmal 'cap' structures, as well as show overall fiber-type disproportion. It has been suggested that unknown modifying factors confer a tendency to one or another pattern of inclusions on skeletal muscle biopsy in those with TPM3 mutations (summary by Waddell et al., 2010 and Malfatti et al., 2013).For a discussion of genetic heterogeneity of nemaline myopathy, see {161800}.

Related symptoms:

  • Generalized hypotonia
  • Scoliosis
  • Muscle weakness
  • Muscular hypotonia
  • Flexion contracture


SOURCES: MESH OMIM MENDELIAN

More info about NEMALINE MYOPATHY 1; NEM1

Top 5 symptoms//phenotypes associated to Muscular hypotonia and Lumbar hyperlordosis

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases
Muscle weakness Common - Between 50% and 80% cases
Proximal muscle weakness Common - Between 50% and 80% cases
Waddling gait Common - Between 50% and 80% cases
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Other less frequent symptoms

Patients with Muscular hypotonia and Lumbar hyperlordosis. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases


Flexion contracture

Uncommon Symptoms - Between 30% and 50% cases


Myopathy

Common Symptoms - More than 50% cases


Hyperlordosis

Uncommon Symptoms - Between 30% and 50% cases


Gowers sign

Common Symptoms - More than 50% cases


Generalized hypotonia

Uncommon Symptoms - Between 30% and 50% cases


Elevated serum creatine phosphokinase Pes cavus Pes planus Scapular winging High palate Easy fatigability Kyphosis Pectus excavatum Difficulty climbing stairs Muscular dystrophy Frequent falls Intellectual disability Distal muscle weakness Facial palsy Knee flexion contracture Reduced tendon reflexes Generalized amyotrophy Limb-girdle muscular dystrophy Increased variability in muscle fiber diameter Spinal rigidity Skeletal muscle atrophy Limb-girdle muscle weakness Difficulty running Talipes equinovarus Delayed speech and language development Ptosis

Rare Symptoms - Less than 30% cases


Hydrocephalus Proximal lower limb amyotrophy Elbow flexion contracture Arthrogryposis multiplex congenita Microcephaly Paralysis Joint stiffness Centrally nucleated skeletal muscle fibers Dyspnea Hyporeflexia Congenital muscular dystrophy Myalgia Dilated cardiomyopathy Cardiomyopathy Respiratory distress Seizures Pectus carinatum Falls EMG: myopathic abnormalities Muscle stiffness Skeletal muscle hypertrophy Calf muscle hypertrophy Respiratory insufficiency due to muscle weakness Abnormal glycosylation Gait disturbance Hypoglycosylation of alpha-dystroglycan Strabismus Decreased fetal movement Toe walking Progressive proximal muscle weakness Areflexia Difficulty walking Joint laxity Ragged-red muscle fibers Respiratory insufficiency Fatigable weakness Poor head control Long face Lower limb muscle weakness Type 1 muscle fiber predominance 2-3 toe syndactyly Vertebral fusion Butterfly vertebrae Decreased cervical spine flexion due to contractures of posterior cervical muscles Hyperplasia of the maxilla Thoracic kyphoscoliosis Self-injurious behavior Abnormality of brain morphology Distal lower limb muscle weakness Distal lower limb amyotrophy Nemaline bodies Exaggerated median tongue furrow Slender build Dental crowding Narrow palate Optic atrophy Hypokinesia Myokymia Impaired visuospatial constructive cognition Triceps weakness Thigh hypertrophy Feeding difficulties Myopia Frontal bossing Exotropia Gastroesophageal reflux Anxiety Aggressive behavior Attention deficit hyperactivity disorder Mitral regurgitation Abnormality of the genital system Facial diplegia Stereotypy Obesity Hypertrophic cardiomyopathy Thoracic kyphosis Ventricular hypertrophy Vocal cord paralysis Abnormality of the neck Achilles tendon contracture Proximal muscle weakness in lower limbs Supraventricular arrhythmia Atrial arrhythmia Retrognathia Increased LDL cholesterol concentration Sprengel anomaly Proximal muscle weakness in upper limbs Ventricular escape rhythm Proximal upper limb amyotrophy Type 1 muscle fiber atrophy Respiratory failure Congestive heart failure Hypertonia Dysphagia Heart block Rimmed vacuoles Arrhythmia Myopathic facies Absent muscle fiber emerin Unsteady gait Ichthyosis Neck muscle weakness Sudden cardiac death Hypertriglyceridemia Decreased muscle mass Narrow face Narrow chest Atrioventricular block Progressive muscle weakness Open mouth Sensory impairment Generalized muscle weakness Back pain Lipodystrophy Myotonia Left ventricular hypertrophy Spasticity Cough Laryngomalacia Fatiguable weakness of proximal limb muscles Peripheral neuropathy Limb muscle weakness Talipes Peripheral axonal neuropathy Distal amyotrophy Limitation of joint mobility Dysphonia Abnormality of muscle fibers Cachexia Spinal muscular atrophy Stridor Bilateral talipes equinovarus Hip contracture Motor axonal neuropathy Areflexia of lower limbs Reduced systolic function Sinus tachycardia Nonprogressive muscular atrophy Ophthalmoplegia Muscle cramps EMG: decremental response of compound muscle action potential to repetitive nerve stimulation Muscle fiber tubular inclusions Increased jitter at single fibre EMG Favorable response of weakness to acetylcholine esterase inhibitors Generalized weakness of limb muscles Abnormal peripheral nervous system synaptic transmission Mildly elevated creatine phosphokinase Pes valgus Mitochondrial myopathy Limb-girdle muscle atrophy Mitral valve prolapse Nasal speech Thoracic scoliosis Aortic root aneurysm Lower limb amyotrophy Central hypoventilation Vocal cord paresis Growth delay Autistic behavior Progressive spasticity Paraplegia Interphalangeal joint contracture of finger Paraparesis Spastic paraparesis Adducted thumb Hemiplegia/hemiparesis Aphasia Hyperactive deep tendon reflexes Camptodactyly of finger Down-sloping shoulders Shuffling gait Aqueductal stenosis Hand clenching Severe hydrocephalus Dilatation Abdominal pain Neonatal hypotonia Spastic paraplegia Abnormality of the nervous system Tachycardia Reduced muscle fiber merosin Infantile muscular hypotonia Motor deterioration Wolff-Parkinson-White syndrome Neck flexor weakness Fatty replacement of skeletal muscle Moderately reduced ejection fraction Muscle fiber hypertrophy Global developmental delay Agenesis of corpus callosum Short stature Cognitive impairment Hyperreflexia Macrocephaly Ventriculomegaly Intellectual disability, mild Clinodactyly of the 5th finger Babinski sign Shoulder girdle muscle atrophy



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