Growth delay, and Proximal muscle weakness

Diseases related with Growth delay and Proximal muscle weakness

In the following list you will find some of the most common rare diseases related to Growth delay and Proximal muscle weakness that can help you solving undiagnosed cases.

Top matches:

Autosomal dominant isolated mitochondrial myopathy is characterized by onset of proximal lower limb weakness and exercise intolerance in the first decade of life. The disorder is slowly progressive, with later involvement of facial muscles, muscles of the upper limbs, and distal muscles. Patients may also have respiratory compromise (summary by Heiman-Patterson et al., 1997).

Related symptoms:

  • Short stature
  • Muscle weakness
  • Myopathy
  • Elevated serum creatine phosphokinase
  • Acidosis


SOURCES: ORPHANET OMIM MENDELIAN

More info about AUTOSOMAL DOMINANT MITOCHONDRIAL MYOPATHY WITH EXERCISE INTOLERANCE

Low match MYOSCLEROSIS

Myosclerosis is a rare, genetic, non-dystrophic myopathy characterized by early, diffuse, progressive muscle and joint contractures that result in severe limitation of movement of axial, proximal, and distal joints, walking difficulties in early childhood and toe walking. Patients typically present thin, sclerotic muscles with a woody consistency, mild girdle and proximal limb weakness with moderate distal weakness and scoliosis. Muscle biopsy shows partial collagen VI deficiency at the myofiber basement membrane and absent collagen VI around most endomysial/perimysial capillaries.

MYOSCLEROSIS Is also known as congenital myosclerosis, lÖwenthal type|myopathy, myosclerotic|myosclerosis, congenital, of lowenthal

Related symptoms:

  • Short stature
  • Scoliosis
  • Flexion contracture
  • Skeletal muscle atrophy
  • Elevated serum creatine phosphokinase


SOURCES: OMIM MESH ORPHANET MENDELIAN

More info about MYOSCLEROSIS

MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB Is also known as myopathy, hyaline body, autosomal recessive

Related symptoms:

  • Short stature
  • Scoliosis
  • Muscle weakness
  • High palate
  • Skeletal muscle atrophy


SOURCES: OMIM MENDELIAN

More info about MYOPATHY, MYOSIN STORAGE, AUTOSOMAL RECESSIVE; MSMB

Other less relevant matches:

Multiple epiphyseal dysplasia is characterized by early-onset short stature, waddling gait, and stiffness and/or pain in the knees and sometimes other joints (Muragaki et al., 1996).For a general phenotypic description and a discussion of genetic heterogeneity of multiple epiphyseal dysplasia, see EDM1 (OMIM ).

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Fatigue
  • Myopathy


SOURCES: OMIM MESH MENDELIAN

More info about EPIPHYSEAL DYSPLASIA, MULTIPLE, 3; EDM3

Mitochondrial myopathy-lactic acidosis-deafness is a type of metabolic myopathy described only in two sisters to date, presenting during childhood, and characterized clinically by growth failure, severe muscle weakness, and moderate sensorineural deafness and biochemically by metabolic acidosis, elevated serum pyruvate concentration, hyperalaninemia and hyperalaninuria. There have been no further descriptions in the literature since 1973.

MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME Is also known as mitochondrial myopathy-lactic acidosis-hearing loss syndrome

Related symptoms:

  • Seizures
  • Generalized hypotonia
  • Sensorineural hearing impairment
  • Muscle weakness
  • Spasticity


SOURCES: OMIM ORPHANET MENDELIAN

More info about MITOCHONDRIAL MYOPATHY-LACTIC ACIDOSIS-DEAFNESS SYNDROME

Multiple epiphyseal dysplasia due to collagen 9 anomaly is a rare primary bone dysplasia disorder characterized by normal or mild short stature, early-onset pain and/or stiffness of the joints (mainly affecting knees but also elbows, wrists, ankles and fingers, with relative sparing of the hips) and early degenerative joint disease. Other skeletal anomalies (incl. varus or valgus deformities, osteochondritis dissecans, abnormal carpal shape, free articular bodies) and mild myopathy have also been reported.

Related symptoms:

  • Short stature
  • Muscle weakness
  • Pain
  • Depressed nasal bridge
  • Gait disturbance


SOURCES: OMIM ORPHANET MESH MENDELIAN

More info about MULTIPLE EPIPHYSEAL DYSPLASIA DUE TO COLLAGEN 9 ANOMALY

MDCCAID is an autosomal recessive form of muscular dystrophy with onset of progressive muscle weakness in early childhood. Almost all patients also have early-onset cataracts, most have intellectual disability of varying severity, and some have seizures (summary by Wiessner et al., 2017 and Osborn et al., 2017).

Related symptoms:

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


SOURCES: OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY, CONGENITAL, WITH CATARACTS AND INTELLECTUAL DISABILITY; MDCCAID

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

MDDGB6 is an autosomal recessive congenital muscular dystrophy with mental retardation and structural brain abnormalities (Longman et al., 2003). It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1 ), collectively known as 'dystroglycanopathies' (Mercuri et al., 2009).For a discussion of genetic heterogeneity of congenital muscular dystrophy-dystroglycanopathy type B, see MDDGB1 (OMIM ).

MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6 Is also known as mdc1d|muscular dystrophy, congenital, large-related|muscular dystrophy, congenital, type 1d

Related symptoms:

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


SOURCES: MESH ORPHANET OMIM MENDELIAN

More info about MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 6; MDDGB6

Polyglucosan body myopathy-1 is an autosomal recessive disorder characterized by onset in childhood of progressive proximal muscle weakness, resulting in difficulties in ambulation. Most patients also develop progressive dilated cardiomyopathy, which may necessitate cardiac transplant in severe cases. A small subset of patients present with severe immunodeficiency and a hyperinflammatory state in very early childhood (summary by Boisson et al., 2012 and Nilsson et al., 2013). Genetic Heterogeneity of Polyglucosan Body MyopathySee also PGBM2 (OMIM ), caused by mutation in the GYG1 gene (OMIM ) on chromosome 3q24.

POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1 Is also known as polyglucosan body myopathy, early-onset, with or without immunodeficiency|pbmei

Related symptoms:

  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Muscle weakness
  • Ptosis


SOURCES: OMIM MENDELIAN

More info about POLYGLUCOSAN BODY MYOPATHY 1 WITH OR WITHOUT IMMUNODEFICIENCY; PGBM1

Top 5 symptoms//phenotypes associated to Growth delay and Proximal muscle weakness

Symptoms // Phenotype % cases
Muscle weakness Common - Between 50% and 80% cases
Elevated serum creatine phosphokinase Common - Between 50% and 80% cases
Short stature Common - Between 50% and 80% cases
Myopathy Common - Between 50% and 80% cases
Skeletal muscle atrophy Uncommon - Between 30% and 50% cases

Other less frequent symptoms

Patients with Growth delay and Proximal muscle weakness. may also develop some of the following symptoms:

Uncommon Symptoms - Between 30% and 50% cases

Gowers sign Generalized hypotonia Limb muscle weakness Lower limb muscle weakness Waddling gait Flexion contracture Scoliosis Hyperlordosis Dilated cardiomyopathy Facial palsy Spinal rigidity Motor delay Muscular dystrophy Progressive muscle weakness

Rare Symptoms - Less than 30% cases

Irregular epiphyses Small epiphyses Epiphyseal dysplasia Mild short stature Osteoarthritis Difficulty walking Seizures Skeletal muscle hypertrophy Spasticity Toe walking Progressive proximal muscle weakness Gait disturbance Pain Intellectual disability Global developmental delay Strabismus Myalgia Hyporeflexia Muscular hypotonia Fatigue Multiple epiphyseal dysplasia Congenital muscular dystrophy Increased serum lactate Neck flexor weakness Lumbar hyperlordosis Mitochondrial myopathy Respiratory insufficiency Cardiomyopathy Congestive heart failure Increased connective tissue Ragged-red muscle fibers Achilles tendon contracture Scapular winging EMG: myopathic abnormalities Myopathic facies Mildly elevated creatine phosphokinase Lactic acidosis Acidosis Hypoglycosylation of alpha-dystroglycan Calf muscle hypertrophy Fatty replacement of skeletal muscle Moderately reduced ejection fraction Muscle fiber hypertrophy Abnormal glycosylation Wolff-Parkinson-White syndrome Motor deterioration Generalized amyotrophy Tachycardia Recurrent pharyngitis Limb-girdle muscular dystrophy Infantile muscular hypotonia Reduced tendon reflexes Frequent falls Pyelonephritis Severe failure to thrive Falls Gastrointestinal inflammation Pes cavus Pectus excavatum Hydrocephalus Talipes equinovarus Reduced muscle fiber merosin Recurrent infections Nystagmus Hypoplasia of the brainstem Hepatomegaly Ptosis Failure to thrive Mild myopia Cerebellar cyst Hepatosplenomegaly Decreased light- and dark-adapted electroretinogram amplitude Elevated hepatic transaminase Abnormality of the liver Abnormality of the periventricular white matter Lower limb hyperreflexia Abnormality of neuronal migration Lymphadenopathy Eczema Psoriasiform dermatitis Myopia Abnormal electroretinogram Elbow flexion contracture Horizontal nystagmus Joint contracture of the hand Pachygyria Open mouth Intellectual disability, profound Macroglossia Abnormality of the cerebral white matter Leukocytosis Immunodeficiency Babinski sign Cerebellar atrophy Ventriculomegaly Cerebellar hypoplasia Hypodontia Increased adipose tissue Scapuloperoneal amyotrophy Metabolic acidosis Dysmetria Postnatal growth retardation Dystonia Dysarthria Sensorineural hearing impairment Abnormality of the hip joint Knee pain Delayed epiphyseal ossification Easy fatigability Short metacarpal Scapuloperoneal weakness Civatte bodies Reduced vital capacity Hemiparesis Type 1 muscle fiber predominance Centrally nucleated skeletal muscle fibers Long face Hypertrophic cardiomyopathy Respiratory failure High palate Restricted neck movement due to contractures Decreased pulmonary function Thoracolumbar scoliosis Congenital contracture Distal muscle weakness Proximal muscle weakness in lower limbs Exercise intolerance Focal-onset seizure EMG abnormality Increased variability in muscle fiber diameter Abnormal joint morphology Spastic gait Lower limb spasticity Abnormal pyramidal sign Rigidity Hyperreflexia Cognitive impairment Cataract Microcephaly Ankle pain Knee osteoarthritis Flattened epiphysis Osteochondritis Dissecans Hypoplasia of the capital femoral epiphysis Genu varum Focal impaired awareness seizure Abnormality of epiphysis morphology Hip dysplasia Limitation of joint mobility Short palm Micromelia Genu valgum Arthralgia Frontal bossing Depressed nasal bridge Moderate sensorineural hearing impairment Vaginal fistula Increased serum pyruvate Hyperalaninemia Episodic vomiting Pharyngitis


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like Frontal bossing and Camptodactyly of finger, related diseases and genetic alterations Fever and Abnormal lung morphology, related diseases and genetic alterations Immunodeficiency and Polyhydramnios, related diseases and genetic alterations Nystagmus and Congenital cataract, related diseases and genetic alterations Ataxia and Hypospadias, related diseases and genetic alterations Global developmental delay and Polymicrogyria, related diseases and genetic alterations