High palate, and Muscular dystrophy

Diseases related with High palate and Muscular dystrophy

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

Top matches:

Related symptoms:

  • Scoliosis
  • Flexion contracture
  • High palate
  • Motor delay
  • Respiratory insufficiency


SOURCES: OMIM MENDELIAN

More info about ULLRICH CONGENITAL MUSCULAR DYSTROPHY 2; UCMD2

Laing distal myopathy, also called myopathy distal, type 1 (MPD1), is characterized by early-onset selective weakness of the great toe and ankle dorsiflexors, and a very slowly progressive course.

LAING EARLY-ONSET DISTAL MYOPATHY Is also known as distal myopathy type 1|mpd1|gowers disease|myopathy, distal, swedish|muscular dystrophy, distal, late-onset, autosomal dominant

Related symptoms:

  • Muscle weakness
  • Myopathy
  • Proximal muscle weakness
  • Distal muscle weakness
  • Muscular dystrophy


SOURCES: ORPHANET OMIM MENDELIAN

More info about LAING EARLY-ONSET DISTAL MYOPATHY

CLASSIC MULTIMINICORE MYOPATHY Is also known as classic multiminicore disease|classic mmd

Related symptoms:

  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive
  • High palate


SOURCES: ORPHANET MENDELIAN

More info about CLASSIC MULTIMINICORE MYOPATHY

Other less relevant matches:

X-linked myopathy with excessive autophagy (XMEA) is an X-linked recessive skeletal muscle disorder characterized by childhood onset of progressive muscle weakness and atrophy primarily affecting the proximal muscles. While onset is usually in childhood, it can range from infancy to adulthood. Many patients lose ambulation and become wheelchair-bound. Other organ systems, including the heart, are clinically unaffected. Muscle biopsy shows intracytoplasmic autophagic vacuoles with sarcolemmal features and a multilayered basal membrane (summary by Ramachandran et al., 2013; Kurashige et al., 2013, and Ruggieri et al., 2015).Danon disease (OMIM ), caused by mutation in the LAMP2 gene (OMIM ) on chromosome Xq24, is a distinct disorder with similar pathologic features.

MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX Is also known as xmea

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, X-LINKED, WITH EXCESSIVE AUTOPHAGY; MEAX

Phosphoglycerate kinase-1 deficiency is an X-linked recessive condition with a highly variable clinical phenotype that includes hemolytic anemia, myopathy, and neurologic involvement. Patients can express 1, 2, or all 3 of these manifestations (Shirakawa et al., 2006).

PHOSPHOGLYCERATE KINASE 1 DEFICIENCY Is also known as pgk1 deficiency

Related symptoms:

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Ataxia


SOURCES: MESH OMIM MENDELIAN

More info about PHOSPHOGLYCERATE KINASE 1 DEFICIENCY

CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME Is also known as congenital muscular dystrophy, davignon-chauveau type

Related symptoms:

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


SOURCES: ORPHANET OMIM MENDELIAN

More info about CONGENITAL MUSCULAR DYSTROPHY-RESPIRATORY FAILURE-SKIN ABNORMALITIES-JOINT HYPERLAXITY SYNDROME

EMARDD is a congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis. More variable features include cleft palate and feeding difficulties. There is variable severity: some patients become ventilator-dependent, never achieve walking, and die in childhood, whereas others have a longer and more favorable course (summary by Logan et al., 2011 and Boyden et al., 2012).

EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME Is also known as emardd

Related symptoms:

  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Scoliosis
  • Growth delay


SOURCES: ORPHANET OMIM MENDELIAN

More info about EARLY-ONSET MYOPATHY-AREFLEXIA-RESPIRATORY DISTRESS-DYSPHAGIA SYNDROME

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

Arhinia-choanal atresia-microphthalmia is a malformation disorder characterized by complete or incomplete absence of nose (arrhinia), choanal atresia, microphthalmia, anophthalmia and cleft or high palate.

ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME Is also known as arhinia, choanal atresia, microphthalmia, and hypogonadotropic hypogonadism

Related symptoms:

  • Hearing impairment
  • Hypertelorism
  • Cleft palate
  • Cataract
  • Cryptorchidism


SOURCES: ORPHANET OMIM MENDELIAN

More info about ARRHINIA-CHOANAL ATRESIA-MICROPHTHALMIA SYNDROME

Rigid spine syndrome (RSS) is a slowly progressive childhood-onset congenital muscular dystrophy (see this term) characterized by contractures of the spinal extensor muscles associated with abnormal posture (limitation of neck and trunk flexure), progressive scoliosis of the spine, early marked cervico-axial muscle weakness with relatively preserved strength and function of the extremities and progressive respiratory insufficiency.

RIGID SPINE SYNDROME Is also known as minicore myopathy, severe classic form|mdrs1|desmin-related myopathy with mallory bodies|multiminicore disease, severe classic form|myopathy, sepn1-related|rigid spine syndrome|muscular dystrophy, congenital, eichsfeld type|rigid spine congenital muscular

Related symptoms:

  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Scoliosis
  • Failure to thrive


SOURCES: OMIM ORPHANET MENDELIAN

More info about RIGID SPINE SYNDROME

Top 5 symptoms//phenotypes associated to High palate and Muscular dystrophy

Symptoms // Phenotype % cases
Scoliosis Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Generalized hypotonia Common - Between 50% and 80% cases
Flexion contracture Common - Between 50% and 80% cases
Motor delay Common - Between 50% and 80% cases

Other less frequent symptoms

Patients with High palate and Muscular dystrophy. may also develop some of the following symptoms:

Common Symptoms - More than 50% cases

Muscle weakness

Uncommon Symptoms - Between 30% and 50% cases

Respiratory insufficiency Congenital muscular dystrophy Global developmental delay Respiratory failure Poor head control Neonatal hypotonia Proximal muscle weakness Generalized muscle weakness Facial palsy Increased variability in muscle fiber diameter Spinal rigidity Progressive muscle weakness Pectus excavatum Congestive heart failure Failure to thrive Limb muscle weakness Short stature Difficulty running Feeding difficulties Neck muscle weakness Muscular hypotonia Distal muscle weakness

Rare Symptoms - Less than 30% cases

Centrally nucleated skeletal muscle fibers Edema Myalgia Waddling gait Arthrogryposis multiplex congenita Ventricular hypertrophy Hyperlordosis Gowers sign Difficulty climbing stairs Hypoventilation Seizures Delayed speech and language development Encephalopathy Respiratory arrest Paralysis Cryptorchidism Nasal speech Decreased fetal movement Hyporeflexia Gastroesophageal reflux Delayed puberty Respiratory distress Dysphagia Cleft palate Minicore myopathy Respiratory insufficiency due to muscle weakness EMG: myopathic abnormalities Severe muscular hypotonia High pitched voice Falls Limb-girdle muscular dystrophy Generalized amyotrophy Myotonia Mildly elevated creatine phosphokinase Right ventricular hypertrophy Frequent falls Areflexia Restrictive deficit on pulmonary function testing Sensory impairment Autophagic vacuoles Axial muscle weakness Pes planus Limited neck flexion Lower limb muscle weakness Multiple joint contractures Delayed gross motor development Nocturnal hypoventilation Skeletal muscle atrophy Kyphoscoliosis Coloboma Low-set ears Visual impairment Inguinal hernia Cleft lip Hypospadias Microphthalmia Micropenis Midface retrusion Hernia Cataract Hypogonadism Elevated serum creatine phosphokinase Distal lower limb muscle weakness Hypertelorism Easy fatigability Joint hypermobility Narrow chest Long face Lumbar hyperlordosis Open mouth Narrow face Muscle stiffness Knee flexion contracture Myopathic facies Hearing impairment Decreased muscle mass Thoracic kyphosis Facial diplegia Nemaline bodies Distal lower limb amyotrophy Synophrys Slender build Myokymia Shoulder girdle muscle atrophy Corneal opacity Primary amenorrhea Iris coloboma Thoracolumbar scoliosis Cardiomyopathy Pneumonia Rigidity Apnea Cough Abnormality of the cerebral white matter Elbow flexion contracture Hip contracture Malignant hyperthermia Cor pulmonale Hepatomegaly Abnormality of the rib cage Reduced vital capacity Peroneal muscle atrophy Muscle fiber necrosis Orthopnea Crackles Hamstring contractures Abnormality of skeletal morphology Type 1 and type 2 muscle fiber minicore regions Abnormality on pulmonary function testing Fever Hypertension Hypoplasia of the maxilla Preauricular pit Broad nasal tip Dental malocclusion Choanal atresia Encephalocele Hypogonadotrophic hypogonadism Scrotal hypoplasia Anosmia Reduced number of teeth Anophthalmia Agenesis of permanent teeth Absent paranasal sinuses Hypoplastic labia majora Hyposmia Lacrimation abnormality Hypoplasia of teeth Diastema Lacrimal duct stenosis Abnormality of the sense of smell Aplasia/Hypoplasia involving the nose Frontal encephalocele Aplasia of the nose Pectus carinatum Bulbar palsy Retrognathia Muscle cramps Renal insufficiency Visual loss Rod-cone dystrophy Jaundice Hepatosplenomegaly Mental deterioration Retinal dystrophy Hemolytic anemia Migraine Fatigue Tetraparesis Exercise intolerance Hyperbilirubinemia Purpura Spastic tetraparesis Hemiplegia Emotional lability Aphasia Splenomegaly Brachydactyly Acute kidney injury Bundle branch block Elevated hepatic transaminase Absent muscle fiber merosin Hypertrophic cardiomyopathy Lethargy Intermittent episodes of respiratory insufficiency due to muscle weakness Weakness of facial musculature Left ventricular hypertrophy Increased muscle lipid content Right bundle branch block Anemia Right ventricular failure Muscle fiber atrophy Progressive proximal muscle weakness Limb-girdle muscle weakness Proximal muscle weakness in lower limbs Limited extraocular movements Intellectual disability Ataxia Pain Rhabdomyolysis Reticulocytosis Dyspnea Distal amyotrophy Abnormal elasticity of skin Growth delay Fasciculations Clumsiness Talipes equinovarus Small hand Respiratory tract infection Camptodactyly of finger Recurrent pneumonia Pes valgus Restrictive ventilatory defect Long fingers Increased connective tissue Diaphragmatic paralysis Increased endomysial connective tissue Hypertonia Kyphosis Pes cavus Gastrostomy tube feeding in infancy Generalized joint laxity Progressive encephalopathy Mitral valve prolapse Myoglobinuria Decreased mean corpuscular volume Increased muscle fatiguability Recurrent myoglobinuria Exercise-induced muscle cramps Exercise-induced myoglobinuria Microretrognathia Recurrent respiratory infections Hyperkeratosis Follicular hyperkeratosis Hip dysplasia Joint laxity Dry skin Mandibular prognathia Rimmed vacuoles Congenital contracture Weak cry Steppage gait Overweight Cardiac conduction abnormality


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